ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340283
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927873
ClinVar RCV Id:
RCV001841141
RCV002451398
RCV003336325
RCV004010506
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Thr555Lys
CA369853629
NM_172057.3:c.1664C>A