Allele Registry

Canonical Allele Identifier: PA2826741158

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628656

RCV001015520

RCV003153768

ClinVar Variation:

524792

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Lys437Gln	CA7738777 NM_001287248.2:c.1309A>C