Canonical Allele Identifier: PA913192410
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 632917
ClinVar RCV Id: RCV000780523
ClinVar Variation Id: 834952
ClinVar RCV Id: RCV001035742

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Gly94Arg
CA371662416
NM_002485.5:c.280G>C
CA371662418
NM_002485.5:c.280G>A