Allele Registry

Canonical Allele Identifier: PA916016533

Gene: BLM HGNC NCBI

ClinVar Allele:

400996

ClinVar RCV:

RCV000475513

RCV000708668

ClinVar Variation:

405312

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Arg764Pro	CA7739029 NM_001287248.2:c.2291G>C