Canonical Allele Identifier: PA2829822358
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1000617
ClinVar RCV Id: RCV001296772

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Arg2400Pro
CA359511754
NM_015384.5:c.7199G>C