Canonical Allele Identifier: PA2580507001
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1709414
ClinVar RCV Id: RCV002289229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg490His
CA359487860
NM_133433.4:c.1469G>A