Allele Registry

Canonical Allele Identifier: PA658678019

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000543241

RCV001019197

RCV001800731

ClinVar Variation:

454170

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser312Ala	CA7738392 NM_000057.4:c.934T>G