Allele Registry

Canonical Allele Identifier: PA2826740957

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000527567

RCV001014494

ClinVar Variation:

454096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Val346Ile	CA7738669 NM_001287248.2:c.1036G>A