Allele Registry

Canonical Allele Identifier: PA103083

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000414264

RCV000675137

RCV003114486

RCV003922387

ClinVar Variation:

326253

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser1004Leu	CA8912897 NM_000271.5:c.3011C>T