Canonical Allele Identifier: PA2742004240
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2868505
ClinVar RCV Id: RCV003602650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Pro606Ser
CA359494988
NM_133433.4:c.1816C>T