Canonical Allele Identifier: PA1139746354
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 978555
ClinVar RCV Id: RCV001257266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Pro351Leu
CA359483816
NM_133433.4:c.1052C>T