Canonical Allele Identifier: PA2830245352
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500311
ClinVar RCV Id: RCV002015548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598004.1:p.Asn545_Ter546insTyrTyrPheIleGlyHisValAlaGlyArgPheHisGluLeuGlnGlyPheIleAlaLeuPheLeuIleIleMetIleGlySerLysArgLysCysGluAlaAspIleHisLysGlyHisPheValHisLysValLeuProLeuGluIleLeuIleLeuAlaGlnThrGlnAsnValSer
CA372803896
NM_133497.4:c.1638G>C
CA372803897
NM_133497.4:c.1638G>T