Canonical Allele Identifier: PA356438
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 219644
ClinVar RCV Id: RCV000206877 RCV000220601 RCV000486552 RCV000764790 RCV000767209 RCV003474978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Val114Phe
CA350859
NM_002485.5:c.340G>T