Canonical Allele Identifier: PA2580507027
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2434362
ClinVar RCV Id: RCV003133028

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.His760Tyr
CA359500343
NM_133433.4:c.2278C>T