Canonical Allele Identifier: PA2499296549
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1067103
ClinVar RCV Id: RCV001378278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg2152Pro
CA359504668
NM_133433.4:c.6455G>C