ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305222
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058083
RCV000181934
RCV000460303
RCV002415513
ClinVar Variation:
67363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.His70Arg
CA006229
NM_172056.2:c.209A>G