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: NIPBL
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_005248339.3:p.Glu274Ter
XM_005248282.5:c.[819del;821A>T]
XM_005248282.5:c.[819del;821A>T;823G>A]
XM_005248282.5:c.820G>T
