Canonical Allele Identifier: PA2829400359
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1740615
ClinVar RCV Id: RCV002328266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Thr148Ile
CA371661650
NM_002485.5:c.443C>T