Canonical Allele Identifier: PA272280
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159217
ClinVar RCV Id: RCV000146711 RCV000361663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ala2338Pro
CA272278
NM_133433.4:c.7012G>C