Allele Registry

Canonical Allele Identifier: PA2826737547

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115288

RCV000172805

RCV000563887

RCV000857591

RCV003952548

ClinVar Variation:

127482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Pro707Ser	CA274808 NM_001287246.2:c.2119C>T