Canonical Allele Identifier: PA2573191610
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1479076
ClinVar RCV Id: RCV001976602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Asp340Glu
CA393842114
NM_001287247.2:c.1020T>A
CA393842115
NM_001287247.2:c.1020T>G