Canonical Allele Identifier: PA218678
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67432
ClinVar RCV Id: RCV000058158 RCV000181888 RCV000699321 RCV001160952 RCV001841720 RCV002504963 RCV002433555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Pro577Leu
CA007286
NM_172057.3:c.1730C>T