ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275502
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200233
ClinVar RCV Id:
RCV000181729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ala479Glu
CA006659
NM_001204798.2:c.1436C>A