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.Ile1005Leu
CA393846615
ENST00000355112.8:c.3013A>C
CA393846616
ENST00000355112.8:c.3013A>T