Canonical Allele Identifier: PA123970
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14443
ClinVar RCV Id: RCV000015527 RCV000015526 RCV000058156 RCV000204621 RCV000589886 RCV000620709 RCV001841247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Ala573Val
CA007260
NM_172057.3:c.1718C>T