Allele Registry

Canonical Allele Identifier: PA916015682

Gene: BLM HGNC NCBI

ClinVar Allele:

132965

ClinVar RCV:

RCV000115316

RCV000465705

RCV000566329

ClinVar Variation:

127508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ala135Ser	CA287127 NM_001287247.2:c.403G>T