Allele Registry

Canonical Allele Identifier: PA102090

Gene: NPC1 HGNC NCBI

ClinVar Allele:

187031

ClinVar RCV:

RCV000169124

RCV000255152

RCV000588149

ClinVar Variation:

188794

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg404Gln	CA273968 NM_000271.5:c.1211G>A