Allele Registry

Canonical Allele Identifier: PA103177

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000169010

RCV000728524

RCV000781669

ClinVar Variation:

188716

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser940Leu	CA273881 NM_000271.5:c.2819C>T