Canonical Allele Identifier: PA193556
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 185980
ClinVar RCV Id: RCV000165497 RCV000168457 RCV001706081 RCV002225484
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Thr139Ala
CA193554
NM_002485.5:c.415A>G