Canonical Allele Identifier: PA2830340033
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 660517
ClinVar RCV Id: RCV000817728 RCV001788361
ClinVar Variation Id: 1790023
ClinVar RCV Id: RCV002448421 RCV003101752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Arg444Pro
CA369856062
NM_172057.3:c.1331G>C
CA915945573
NM_172057.3:c.1331_1332delinsCC