Canonical Allele Identifier: PA916016419
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 575451
ClinVar RCV Id: RCV000697671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.His653Arg
CA393846792
NM_001287248.2:c.1958A>G