Allele Registry

Canonical Allele Identifier: PA145952

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000078467

RCV000615932

RCV000675572

RCV003824648

ClinVar Variation:

92701

2970946

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Met642Ile	CA145951 NM_000271.5:c.1926G>C CA401772177 NM_000271.5:c.1926G>T CA401772178 NM_000271.5:c.1926G>A