Canonical Allele Identifier: PA271999
Gene: NIPBL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_056199.2:p.Ser698Ter
NM_015384.5:c.2093del

NM_015384.5:c.[2093del;2095A>G]

NM_015384.5:c.2093C>A

NM_015384.5:c.2093C>G