Canonical Allele Identifier: PA269910
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 133307
ClinVar RCV Id: RCV000119818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Met1793Arg
CA269908
NM_133433.4:c.5378T>G