Canonical Allele Identifier: PA2499296554
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1000617
ClinVar RCV Id: RCV001296772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg2400Pro
CA359511754
NM_133433.4:c.7199G>C