ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340111
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418246
ClinVar RCV Id:
RCV000481087
RCV001348803
RCV001841393
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg483Gln
CA16618403
NM_172057.3:c.1448G>A