Canonical Allele Identifier: PA2580507052
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1729878
ClinVar RCV Id: RCV002326177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ala1099Thr
CA3236304
NM_133433.4:c.3295G>A