Allele Registry

Canonical Allele Identifier: PA2826740504

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000535993

RCV002395272

ClinVar Variation:

454079

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Thr119Ile	CA393843153 NM_001287248.2:c.356C>T