Canonical Allele Identifier: PA2825335504
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 230687
ClinVar RCV Id: RCV000216186 RCV001228729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Leu492Val
CA10578754
NM_001024688.3:c.1474T>G