ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275479
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200438
ClinVar RCV Id:
RCV001361466
RCV003165386
ClinVar Variation Id:
940061
ClinVar RCV Id:
RCV001209572
RCV002497719
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Val456Leu
CA006553
NM_001204798.2:c.1366G>C
CA031879
NM_001204798.2:c.1366G>T