Canonical Allele Identifier: PA2826738229
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1481133
ClinVar RCV Id: RCV002022220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Val1027Ala
CA393846787
NM_001287246.2:c.3080T>C