ClinGen Allele Registry
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Canonical Allele Identifier:
PA272000
Gene: NIPBL
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_597677.2:p.Ser698Ter
NM_133433.4:c.2093del
NM_133433.4:c.[2093del;2095A>G]
NM_133433.4:c.2093C>A
NM_133433.4:c.2093C>G