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
ENSP00000497646.1:p.Val1027Leu
CA393846784
ENST00000648453.1:c.3079G>C
CA393846785
ENST00000648453.1:c.3079G>T