Canonical Allele Identifier: PA2825041412
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822308
ClinVar RCV Id: RCV001017571 RCV001860870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Arg979Lys
CA274764688
NM_000057.4:c.2936G>A