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_011518170.1:p.Glu743Asp
CA379519641
XM_011519868.3:c.2229A>T
CA379519645
XM_011519868.3:c.2229A>C