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.Met1007Leu
CA393846630
ENST00000681142.1:c.3019A>T
CA393846631
ENST00000681142.1:c.3019A>C