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: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506682.1:p.[Arg1075_Val1081del;Ser1083_Val1085del;Phe1087_Gly1104delinsCysAsp]
CA344528
ENST00000681142.1:c.3223dup