Canonical Allele Identifier: PA1139746535
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 982882
ClinVar RCV Id: RCV001262607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Cys573Arg
CA359494262
NM_133433.4:c.1717T>C