Allele Registry

Canonical Allele Identifier: PA101935

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003106

RCV000790787

ClinVar Variation:

2972

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ala1035Val	CA220563 NM_000271.5:c.3104C>T