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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000269228.4:p.Cys914Ser
CA401792749
ENST00000269228.10:c.2741G>C
CA401792752
ENST00000269228.10:c.2740T>A