Canonical Allele Identifier: PA2829821646
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2723955
ClinVar RCV Id: RCV003499576 RCV004369185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Ser742Arg
CA3236145
NM_015384.5:c.2224A>C
CA359499759
NM_015384.5:c.2226C>A
CA359499764
NM_015384.5:c.2226C>G