Canonical Allele Identifier: PA305048
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200475
ClinVar RCV Id: RCV000181878 RCV001088454 RCV002433792 RCV001842830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Leu549Val
CA007102
NM_172057.3:c.1645T>G