Canonical Allele Identifier: PA2826739756
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1683324
ClinVar RCV Id: RCV002238623 RCV002443273 RCV003093921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Arg1016Thr
CA393846708
NM_001287247.2:c.3047G>C