Allele Registry

Canonical Allele Identifier: PA916015649

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000572396

RCV000812053

RCV003329312

ClinVar Variation:

485329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Asp88Glu	CA7738270 NM_001287247.2:c.264C>A CA393840054 NM_001287247.2:c.264C>G