Canonical Allele Identifier: PA2580277131
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1787695
ClinVar RCV Id: RCV002425796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Glu736Lys
CA371674796
NM_002485.5:c.2206G>A