Allele Registry

Canonical Allele Identifier: PA102550

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000412462

RCV004525924

ClinVar Variation:

371037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Glu1189Gly	CA8912726 NM_000271.5:c.3566A>G