Canonical Allele Identifier: PA257240
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14428
ClinVar RCV Id: RCV000057970 RCV000181815 RCV000537059 RCV002399326 RCV000015509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Arg242Cys
CA005345
NM_172057.3:c.724C>T