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: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000477926.1:p.Glu252Asp
CA378051913
ENST00000613394.4:c.756G>T
CA378051914
ENST00000613394.4:c.756G>C