ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275077
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67266
ClinVar RCV Id:
RCV000057979
RCV002280098
RCV001854197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Asn248Asp
CA005415
NM_001204798.2:c.742A>G