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
ENSP00000514151.1:p.Leu754Pro
CA341630
ENST00000699134.1:c.2261T>C
CA2825001735
ENST00000699134.1:c.2259_2261delinsCCC