Allele Registry

Canonical Allele Identifier: PA103049

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000158970

RCV000610038

ClinVar Variation:

181455

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Pro543Leu	CA297011 NM_000271.5:c.1628C>T