Allele Registry

Canonical Allele Identifier: PA287102

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115307

RCV000475273

RCV000566047

RCV001818265

ClinVar Variation:

127499

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Glu1143Lys	CA287100 NM_000057.4:c.3427G>A