Canonical Allele Identifier: PA211511
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67504
ClinVar RCV Id: RCV000058233 RCV000148539 RCV000181756 RCV000620293 RCV000853031 RCV000988005 RCV001841759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742053.1:p.Pro141Leu
CA008431
NM_172056.2:c.422C>T