Canonical Allele Identifier: PA2825335460
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2160601
ClinVar RCV Id: RCV003076037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Ala475Asp
CA371655355
NM_001024688.3:c.1424C>A