ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328568
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67204
ClinVar RCV Id:
RCV000057913
RCV000778143
RCV001841700
RCV001854192
RCV002250552
RCV002504961
RCV004549482
RCV003343626
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.His492Tyr
CA004679
NM_172056.2:c.1474C>T