Canonical Allele Identifier: PA2826738269
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1461979
ClinVar RCV Id: RCV001968225 RCV002324412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ala1043Val
CA393846896
NM_001287246.2:c.3128C>T