Canonical Allele Identifier: PA2499245910
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1062493
ClinVar RCV Id: RCV001372217 RCV002438871
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.His996Arg
CA393846561
NM_001287247.2:c.2987A>G