Allele Registry

Canonical Allele Identifier: PA645411684

Gene: NPC1 HGNC NCBI

ClinVar Allele:

361029

ClinVar RCV:

RCV000414757

RCV001861450

ClinVar Variation:

374166

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ala1187Gly	CA16043538 NM_000271.5:c.3560C>G