Allele Registry

Canonical Allele Identifier: PA103021

Gene: NPC1 HGNC NCBI

ClinVar Allele:

410329

ClinVar RCV:

RCV000479598

RCV002470869

ClinVar Variation:

419321

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Pro433Leu	CA16620669 NM_000271.5:c.1298C>T