Allele Registry

Canonical Allele Identifier: PA2826740626

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000462089

RCV002393086

ClinVar Variation:

405284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Tyr176Cys	CA7738568 NM_001287248.2:c.527A>G