Canonical Allele Identifier: PA304972
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200438
ClinVar RCV Id: RCV001361466 RCV003165386
ClinVar Variation Id: 940061
ClinVar RCV Id: RCV001209572 RCV002497719
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Val456Leu
CA006553
NM_172057.3:c.1366G>C
CA031879
NM_172057.3:c.1366G>T