Canonical Allele Identifier: PA2573192119
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1504545
ClinVar RCV Id: RCV002028880 RCV004046122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Gly979Asp
CA393851524
NM_001287248.2:c.2936G>A