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.Ser403Arg
CA401777992
XM_005258278.5:c.1209C>G
CA401777994
XM_005258278.5:c.1209C>A
CA401778014
XM_005258278.5:c.1207A>C