Allele Registry

Canonical Allele Identifier: PA093466

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000169338

RCV001014085

RCV001310295

ClinVar Variation:

188963

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Gln672Arg	CA274191 NM_000057.4:c.2015A>G