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
ENSP00000347232.3:p.[Thr994_Leu1004delinsPro;Glu1008_Leu1023del]
CA717030206
ENST00000355112.8:c.2980del