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
ENSP00000464755.1:p.Phe27Leu	CA401790671 ENST00000590723.5:c.81C>G CA401790672 ENST00000590723.5:c.81C>A CA401790677 ENST00000590723.5:c.79T>C