Canonical Allele Identifier: PA915995716
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 558568
ClinVar RCV Id: RCV000674860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.[Asn71_Ser72insTrpAsnArg;Ser72_Lys73insGlyGlnPro]
CA915945804
NM_002485.5:c.214_215insGGAACCGCTCGGGGCAGC