Allele Registry

Canonical Allele Identifier: PA2826740195

Gene: BLM HGNC NCBI

ClinVar Allele:

477276

ClinVar RCV:

RCV000568146

RCV001227793

RCV003392414

ClinVar Variation:

485342

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Lys1225Arg	CA274729005 NM_001287247.2:c.3674A>G