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
XP_011524317.1:p.Asn963Lys	CA401791485 XM_011526015.1:c.2889C>G CA401791486 XM_011526015.1:c.2889C>A