Allele Registry

Canonical Allele Identifier: PA658678238

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000534742

RCV001021321

RCV001821469

RCV002280123

ClinVar Variation:

454144

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser1290Leu	CA274727854 NM_000057.4:c.3869C>T