Allele Registry

Canonical Allele Identifier: PA645487946

Gene: BLM HGNC NCBI

ClinVar Allele:

400980

ClinVar RCV:

RCV000477499

RCV002451078

RCV003151059

RCV003441864

ClinVar Variation:

405315

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Tyr811Cys	CA7738775 NM_000057.4:c.2432A>G