Canonical Allele Identifier: PA2829821524
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1709414
ClinVar RCV Id: RCV002289229

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Arg490His
CA359487860
NM_015384.5:c.1469G>A