Allele Registry

Canonical Allele Identifier: PA916016529

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000696522

RCV003303152

ClinVar Variation:

574560

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Gly759Arg	CA393847514 NM_001287248.2:c.2275G>A CA393847515 NM_001287248.2:c.2275G>C