Canonical Allele Identifier: PA2580507026
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2099132
ClinVar RCV Id: RCV003022851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg743Cys
CA359499776
NM_133433.4:c.2227C>T