Canonical Allele Identifier: PA915956891
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 6946
ClinVar RCV Id: RCV000007360 RCV000007361 RCV000115797 RCV000197512 RCV000121618 RCV000490266 RCV000589577 RCV001030566 RCV001358233 RCV001262350 RCV003492288 RCV003891430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Ile89Val
CA160981
NM_001024688.3:c.265A>G