Canonical Allele Identifier: PA645467055
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 424011
ClinVar RCV Id: RCV000480367 RCV002525957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Pro2321Leu
CA16618204
NM_133433.4:c.6962C>T