Allele Registry

Canonical Allele Identifier: PA287120

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115313

RCV000561783

RCV000628664

RCV002357412

ClinVar Variation:

127505

1735910

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Gly1298Arg	CA287118 NM_000057.4:c.3892G>A CA393850436 NM_000057.4:c.3892G>C