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
XP_011524317.1:p.Cys776Ser
CA401792749
XM_011526015.1:c.2327G>C
CA401792752
XM_011526015.1:c.2326T>A