ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645442904
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372574
ClinVar RCV Id:
RCV000412811
RCV002523917
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Cys555Tyr
CA16042572
NM_172056.2:c.1664G>A