Canonical Allele Identifier: PA2830227945
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 3200176
ClinVar RCV Id: RCV004493076

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Thr1747Ala
CA359487806
NM_133433.4:c.5239A>G