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
ENSP00000453359.1:p.[Leu258_Leu262del;Asp264_Asp267del;Glu270_Pro287delinsPheGlyArg]
CA344542
ENST00000559724.5:c.772_773del