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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.Ser478Ter
XM_005248282.5:c.1433del
XM_005248282.5:c.[1433del;1435A>G]
XM_005248282.5:c.1433C>A
XM_005248282.5:c.1433C>G