Canonical Allele Identifier: PA2742004529
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2662588
ClinVar RCV Id: RCV003441253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Gln2341His
CA359510620
NM_133433.4:c.7023A>T
CA359510624
NM_133433.4:c.7023A>C