Allele Registry

Canonical Allele Identifier: PA645487900

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000468134

RCV000574215

RCV001821235

RCV003477944

ClinVar Variation:

405326

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Glu507Lys	CA7738551 NM_000057.4:c.1519G>A