Canonical Allele Identifier: PA236745
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191470
ClinVar RCV Id: RCV000171663 RCV000412673 RCV000618660 RCV001085306 RCV000988001 RCV001842517
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Arg552Cys
CA007118
NM_172057.3:c.1654C>T