Canonical Allele Identifier: PA2825335988
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 230832
ClinVar RCV Id: RCV000216943 RCV000541325 RCV001527001
ClinVar Variation Id: 461547
ClinVar RCV Id: RCV000566491 RCV000553933 RCV003476252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Asp660Glu
CA4802584
NM_001024688.3:c.1980T>A
CA371674753
NM_001024688.3:c.1980T>G