Canonical Allele Identifier: PA2825042025
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1927223
ClinVar RCV Id: RCV002631063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu1318Lys
CA393850845
NM_000057.4:c.3952G>A