Canonical Allele Identifier: PA916063882
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 802114
ClinVar RCV Id: RCV000987511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Lys1732Arg
CA3236711
NM_133433.4:c.5195A>G