Canonical Allele Identifier: PA2829400247
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2696621
ClinVar RCV Id: RCV003507608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ala127Tyr
CA2697550009
NM_002485.5:c.379_380delinsTA