Allele Registry

Canonical Allele Identifier: PA2826738474

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000696522

RCV003303152

ClinVar Variation:

574560

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Gly1134Arg	CA393847514 NM_001287246.2:c.3400G>A CA393847515 NM_001287246.2:c.3400G>C