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_016864818.1:p.Glu494Ter
XM_017009329.1:c.[1479del;1481A>T]
XM_017009329.1:c.[1479del;1481A>T;1483G>A...
XM_017009329.1:c.1480G>T