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
ENSP00000454158.1:p.His1193Gln
CA393850971
ENST00000560509.5:c.3579C>A
CA393850975
ENST00000560509.5:c.3579C>G