Canonical Allele Identifier: PA160983
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
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ile171Val
CA160981
NM_002485.5:c.511A>G