ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: NBN
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000430983.1:p.Arg43_Gly159del
ENST00000519426.5:c.[123del;125G>T;128G>T...
ENST00000519426.5:c.[123del;125G>T;128G>T...
ENST00000519426.5:c.127C>T