Canonical Allele Identifier: PA2580507028
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2117569
ClinVar RCV Id: RCV003039266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Arg766Ser
CA359500470
NM_133433.4:c.2298G>C
CA359500472
NM_133433.4:c.2298G>T