Canonical Allele Identifier: PA2741897713
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2582000
ClinVar RCV Id: RCV003332706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Asp554Val
CA371655372
NM_002485.5:c.1661A>T