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_005258335.1:p.Thr1060Ser	CA401791873 XM_005258278.5:c.3179C>G CA401791875 XM_005258278.5:c.3178A>T