Canonical Allele Identifier: PA199965
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67427
ClinVar RCV Id: RCV000058152 RCV000171815 RCV000223864 RCV000249181 RCV000276195 RCV001095232 RCV001841716 RCV002504962
ClinVar Variation Id: 2167406
ClinVar RCV Id: RCV003099031
ClinVar Variation Id: 2919924
ClinVar RCV Id: RCV003649142
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Lys557Thr
CA007162
NM_172057.3:c.1670A>C
CA2580077775
NM_172057.3:c.1670_1671delinsCA
CA2739278689
NM_172057.3:c.1670_1671delinsCC