Canonical Allele Identifier: PA2829821443
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2308296
ClinVar RCV Id: RCV002900940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Ser339Asn
CA359483536
NM_015384.5:c.1016G>A