Canonical Allele Identifier: PA2829821693
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2759725
ClinVar RCV Id: RCV003498578
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Arg827Lys
CA3236178
NM_015384.5:c.2480G>A