Canonical Allele Identifier: PA2825334643
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1763820
ClinVar RCV Id: RCV002414468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Cys203Phe
CA371658379
NM_001024688.3:c.608G>T