Allele Registry

Canonical Allele Identifier: PA2826739869

Gene: BLM HGNC NCBI

ClinVar Allele:

132953

ClinVar RCV:

RCV000115304

RCV001275698

RCV002255286

ClinVar Variation:

127496

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Cys1067Tyr	CA287093 NM_001287247.2:c.3200G>A