Canonical Allele Identifier: PA2830245351
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421350
ClinVar RCV Id: RCV001943775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598004.1:p.Asn545_Ter546insSerTyrPheIleGlyHisValAlaGlyArgPheHisGluLeuGlnGlyPheIleAlaLeuPheLeuIleIleMetIleGlySerLysArgLysCysGluAlaAspIleHisLysGlyHisPheValHisLysValLeuProLeuGluIleLeuIleLeuAlaGlnThrGlnAsnValSer
CA372803893
NM_133497.4:c.1637A>C