ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144994
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67493
ClinVar RCV Id:
RCV000058222
RCV002223783
RCV002514289
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg795His
CA008277
NM_172057.3:c.2384G>A