Canonical Allele Identifier: PA096939
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159223
ClinVar RCV Id: RCV000146717 RCV000494480 RCV002371984 RCV003407564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ala2390Thr
CA272292
NM_133433.4:c.7168G>A