Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser118Arg	CA401785486 NM_000271.5:c.354T>A CA401785489 NM_000271.5:c.354T>G CA401785511 NM_000271.5:c.352A>C