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.Phe1184Leu
CA401791050
XM_005258278.5:c.3552C>G
CA401791051
XM_005258278.5:c.3552C>A
CA401791056
XM_005258278.5:c.3550T>C