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.Met348Ile
CA7738414
ENST00000559724.5:c.1044G>A
CA393842167
ENST00000559724.5:c.1044G>C
CA393842168
ENST00000559724.5:c.1044G>T