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.Val650Leu	CA401771876 NM_000271.5:c.1948G>T CA401771877 NM_000271.5:c.1948G>C