Canonical Allele Identifier: PA092978
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67432
ClinVar RCV Id: RCV000058158 RCV000181888 RCV000699321 RCV001160952 RCV001841720 RCV002504963 RCV002433555
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000229.1:p.Pro917Leu
CA007286
NM_000238.4:c.2750C>T