Allele Registry

Canonical Allele Identifier: PA916016290

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000541196

RCV001016575

RCV001030457

RCV001194357

RCV003153670

RCV003478099

ClinVar Variation:

454121

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ile947Val	CA7738884 NM_001287247.2:c.2839A>G