Canonical Allele Identifier: PA645466175
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_002476.2:p.Asp742Glu
CA4802584
NM_002485.5:c.2226T>A
CA371674753
NM_002485.5:c.2226T>G