Canonical Allele Identifier: PA1139747013
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 842418
ClinVar RCV Id: RCV001044837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Leu1585dup
CA916082698
NM_133433.4:c.4749_4751dup