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.Lys1013Asn	CA401792077 NM_000271.5:c.3039A>T CA401792078 NM_000271.5:c.3039A>C