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
ENSP00000406266.2:p.Ser698Ter
ENST00000448238.2:c.2093del
ENST00000448238.2:c.[2093del;2095A>G]
ENST00000448238.2:c.2093C>A
ENST00000448238.2:c.2093C>G