Allele Registry

Canonical Allele Identifier: PA102067

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000169602

RCV000479463

RCV001193399

ClinVar Variation:

189174

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg1186His	CA274457 NM_000271.5:c.3557G>A