Canonical Allele Identifier: PA252119
Gene: NIPBL HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_597677.2:p.Ile1206del
NM_133433.4:c.3616_3618del

NM_133433.4:c.[3616_3618del;3621G>A]

NM_133433.4:c.[3616_3618del;3621G=]