Canonical Allele Identifier: PA916015952
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133713
ClinVar RCV Id: RCV000120246 RCV000689681 RCV001012917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Thr581Ala
CA157442
NM_001287247.2:c.1741A>G