Canonical Allele Identifier: PA272007
Gene: NIPBL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_056199.2:p.Arg754Ter
NM_015384.5:c.[2259del;2261G>T;2263C>A]

NM_015384.5:c.[2259del;2261G>T;2263C>G]

NM_015384.5:c.2260C>T