Canonical Allele Identifier: PA916016523
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127498
ClinVar RCV Id: RCV000115306 RCV000542140 RCV000567551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Lys758Glu
CA287097
NM_001287248.2:c.2272A>G