Canonical Allele Identifier: PA2829821682
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2014126
ClinVar RCV Id: RCV002861339

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Ser809Phe
CA359501197
NM_015384.5:c.2426C>T