ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658676841
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456931
ClinVar RCV Id:
RCV000555194
RCV001841446
RCV002456056
RCV001570323
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu810Met
CA039050
NM_172057.3:c.2428C>A