Allele Registry

Canonical Allele Identifier: PA102328

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000175270

RCV000606384

RCV000724467

RCV002516669

RCV003937576

ClinVar Variation:

194810

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Asp874Val	CA275049 NM_000271.5:c.2621A>T