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: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000399590.2:p.[Lys180_Leu181delinsGlnThr;His183_Leu184delinsThr;Glu186_Leu209del]
CA342558
ENST00000438420.6:c.537dup