Canonical Allele Identifier: PA2742004490
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2503120
ClinVar RCV Id: RCV003229954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Val2147Ala
CA359504596
NM_133433.4:c.6440T>C