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
NP_009147.3:p.Glu743Asp
CA379519641
NM_007216.4:c.2229A>T
CA379519645
NM_007216.4:c.2229A>C