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_005258335.1:p.Cys184Ser
CA401782436
XM_005258278.5:c.551G>C
CA401782449
XM_005258278.5:c.550T>A