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
ENSP00000514146.1:p.Trp593Cys
CA378043667
ENST00000699125.1:c.1779G>C
CA378043668
ENST00000699125.1:c.1779G>T