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_016881273.1:p.Cys496Ser
CA401775698
XM_017025784.1:c.1487G>C
CA401775702
XM_017025784.1:c.1486T>A