ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275003
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182026
RCV000531749
RCV002408791
ClinVar Variation:
200733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.His222Tyr
CA005051
NM_001204798.2:c.664C>T