Allele Registry

Canonical Allele Identifier: PA2826736708

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000543241

RCV001019197

RCV001800731

ClinVar Variation:

454170

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Ser312Ala	CA7738392 NM_001287246.2:c.934T>G