Canonical Allele Identifier: PA2825335478
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 138427
ClinVar RCV Id: RCV000129092 RCV000205604 RCV000212749 RCV000589500 RCV001356803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Glu482Lys
CA293957
NM_001024688.3:c.1444G>A