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_016881274.1:p.Cys1185Ser
CA401791046
XM_017025785.1:c.3554G>C
CA401791049
XM_017025785.1:c.3553T>A