Canonical Allele Identifier: PA2580197407
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1737523
ClinVar RCV Id: RCV002321442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ala982Ser
CA393851556
NM_001287248.2:c.2944G>T