Allele Registry

Canonical Allele Identifier: PA916016477

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120229

RCV001069669

RCV002321599

ClinVar Variation:

133700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Ser718Leu	CA157391 NM_001287248.2:c.2153C>T