Canonical Allele Identifier: PA658671485
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 485929
ClinVar RCV Id: RCV000574113 RCV001372748
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Cys119Phe
CA371662094
NM_002485.5:c.356G>T