Canonical Allele Identifier: PA2826741494
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2748371
ClinVar RCV Id: RCV003504703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Pro592Arg
CA393846374
NM_001287248.2:c.1775C>G