Allele Registry

Canonical Allele Identifier: PA2826740829

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000116502

RCV000211548

RCV000565415

RCV000857778

RCV003891606

ClinVar Variation:

127480

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Arg268His	CA152050 NM_001287248.2:c.803G>A