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_024303739.1:p.Leu678Pro
CA341630
XM_024447971.1:c.2033T>C
CA2825001735
XM_024447971.1:c.2031_2033delinsCCC