Canonical Allele Identifier: PA287915
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127863
ClinVar RCV Id: RCV000115786 RCV000230585 RCV000212753 RCV000515337 RCV001778709 RCV001328956 RCV003915124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ser667Pro
CA287913
NM_002485.5:c.1999T>C