ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826274985
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002223502
ClinVar Variation:
1677821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ala218Thr
CA369858843
NM_001204798.2:c.652G>A