Allele Registry

Canonical Allele Identifier: PA645487993

Gene: BLM HGNC NCBI

ClinVar Allele:

400996

ClinVar RCV:

RCV000475513

RCV000708668

ClinVar Variation:

405312

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Arg1139Pro	CA7739029 NM_000057.4:c.3416G>C