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_005258334.1:p.Trp1162Arg
CA401791207
XM_005258277.1:c.3484T>A
CA401791208
XM_005258277.1:c.3484T>C