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: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514233.1:p.[Thr574del;Gln576_Asp577del;Phe580_Gln582delinsIleAla;Val584Ser;Leu586_His588delinsArgPro;Glu590_Phe591del;Gln593_Arg603del]
CA342357
ENST00000699244.1:c.1719del
CA920347849
ENST00000699244.1:c.1720del