ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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.Val765Ile
CA7738710
ENST00000680772.1:c.2293G>A