Canonical Allele Identifier: PA304511
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200280
ClinVar RCV Id: RCV000181754 RCV002516842 RCV002362931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000229.1:p.Phe129Leu
CA008406
NM_000238.4:c.387C>G
CA369863764
NM_000238.4:c.387C>A
CA369863769
NM_000238.4:c.385T>C