ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275137
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67290
ClinVar RCV Id:
RCV000058007
RCV000190215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Tyr271Asp
CA005628
NM_001204798.2:c.811T>G