Canonical Allele Identifier: PA294384
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 142374
ClinVar RCV Id: RCV000131458 RCV000199946 RCV000212747 RCV000735122 RCV002225444 RCV003492622 RCV003905237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Thr452Pro
CA294382
NM_002485.5:c.1354A>C