ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340279
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448972
ClinVar RCV Id:
RCV000520688
RCV001841406
RCV002060266
RCV002431480
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg554His
CA034058
NM_172057.3:c.1661G>A