Allele Registry

Canonical Allele Identifier: PA916016362

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115282

RCV001222033

RCV002381418

ClinVar Variation:

127476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Met75Val	CA287061 NM_001287248.2:c.223A>G