Canonical Allele Identifier: PA1139691666
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 969393
ClinVar RCV Id: RCV001244730 RCV002375296
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Glu938Ala
CA7739165
NM_001287248.2:c.2813A>C