Canonical Allele Identifier: PA272194
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159171
ClinVar RCV Id: RCV000146665

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ala2024Glu
CA272192
NM_133433.4:c.6071C>A