Canonical Allele Identifier: PA2499296552
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 996259
ClinVar RCV Id: RCV001290592 RCV003603090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Pro2330Ala
CA3237109
NM_133433.4:c.6988C>G