Allele Registry

Canonical Allele Identifier: PA287054

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115279

RCV000210906

RCV000562058

RCV000656774

RCV003492469

RCV003935097

ClinVar Variation:

127473

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Val4Ala	CA287052 NM_000057.4:c.11T>C