Allele Registry

Canonical Allele Identifier: PA157429

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120241

RCV000330317

RCV000562376

RCV001030679

RCV001252853

RCV001800407

RCV003915190

ClinVar Variation:

133710

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Leu60Ile	CA157427 NM_000057.4:c.178T>A