ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275116
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67284
ClinVar RCV Id:
RCV000058000
RCV000631723
RCV000735254
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Pro265Leu
CA005574
NM_001204798.2:c.794C>T