Allele Registry

Canonical Allele Identifier: PA658802540

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628681

RCV001015940

RCV003478339

ClinVar Variation:

524813

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser854Asn	CA7738822 NM_000057.4:c.2561G>A