Allele Registry

Canonical Allele Identifier: PA916015941

Gene: BLM HGNC NCBI

ClinVar Allele:

400593

ClinVar RCV:

RCV000462089

RCV002393086

ClinVar Variation:

405284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Tyr551Cys	CA7738568 NM_001287247.2:c.1652A>G