Canonical Allele Identifier: PA328471
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67183
ClinVar RCV Id: RCV000057890 RCV000481749 RCV001854190 RCV002381372
ClinVar Variation Id: 519399
ClinVar RCV Id: RCV000618256 RCV000631556
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000229.1:p.Phe431Leu
CA004434
NM_000238.4:c.1293C>A
CA369860049
NM_000238.4:c.1293C>G
CA369860054
NM_000238.4:c.1291T>C