ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275460
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200428
ClinVar RCV Id:
RCV000181849
RCV000694640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ile447Asn
CA006494
NM_001204798.2:c.1340T>A