Canonical Allele Identifier: PA2742004437
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 3024313
ClinVar RCV Id: RCV003883359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Gln1776Arg
CA359488526
NM_133433.4:c.5327A>G