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_005269815.1:p.Leu635Pro
CA341630
XM_005269758.1:c.1904T>C
CA2825001735
XM_005269758.1:c.1902_1904delinsCCC