ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580511991
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784031
ClinVar RCV Id:
RCV002416968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg665Gln
CA169076266
NM_172056.2:c.1994G>A