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: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011518165.1:p.Cys983Ser
CA379514324
XM_011519863.1:c.2948G>C
CA379514351
XM_011519863.1:c.2947T>A