Canonical Allele Identifier: PA272293
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159223
ClinVar RCV Id: RCV000146717 RCV000494480 RCV002371984 RCV003407564
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Ala2390Thr
CA272292
NM_015384.5:c.7168G>A