Allele Registry

Canonical Allele Identifier: PA2573166804

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV002024676

ClinVar Variation:

1519538

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg978Ser	CA401792308 NM_000271.5:c.2932C>A