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
ENSP00000392462.2:p.[Pro231_Leu234delinsArgProThrCys;Ala236_Tyr245delinsProSerSerSerTrpPheArgThrSerThr;Ser247_Ser260delinsAlaArgAlaGlnGlnArgThrThrPheArgArgGlnThrAla]
CA2610461347
ENST00000414009.2:c.692del