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
ENSP00000506117.1:p.Arg1000Ser
CA393846589
ENST00000680772.1:c.3000A>C
CA393846590
ENST00000680772.1:c.3000A>T