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
XP_016871660.1:p.Leu512Pro
CA341630
XM_017016171.2:c.1535T>C
CA2825001735
XM_017016171.2:c.1533_1535delinsCCC