Canonical Allele Identifier: PA2573295588
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1513479
ClinVar RCV Id: RCV002026193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg894His
CA3236211
NM_133433.4:c.2681G>A