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
ENSP00000437437.1:p.Lys80Asn
CA379514839
ENST00000537258.1:c.240A>T
CA379514841
ENST00000537258.1:c.240A>C