Canonical Allele Identifier: PA2829821644
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2502713
ClinVar RCV Id: RCV003229386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Gln738His
CA359499621
NM_015384.5:c.2214A>T
CA359499624
NM_015384.5:c.2214A>C