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Mutation Direct

Effortless mutation search and display tool

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Gene: NPC1 & Disease: Headache, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2966	NPC1	c.3019C>G	p.Pro1007Ala (p.P1007A)	NM_000271.5 M	SNV	P	3 +	23
374049	NPC1	c.1421C>T	p.Pro474Leu (p.P474L)	NM_000271.5 M	SNV	P	3 +	3

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