Canonical Allele Identifier: PA1139691630
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 843387
ClinVar RCV Id: RCV001046000 RCV002372792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ser927Phe
CA393850518
NM_001287248.2:c.2780C>T