Canonical Allele Identifier: PA2580506956
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2045870
ClinVar RCV Id: RCV002908961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Val99Ile
CA3235776
NM_133433.4:c.295G>A