Canonical Allele Identifier: PA2829821427
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2218767
ClinVar RCV Id: RCV002687416 RCV003603131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Arg308Gln
CA117031540
NM_015384.5:c.923G>A