Allele Registry

Canonical Allele Identifier: PA916016157

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628656

RCV001015520

RCV003153768

ClinVar Variation:

524792

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Lys812Gln	CA7738777 NM_001287247.2:c.2434A>C