ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211499
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67391
ClinVar RCV Id:
RCV000058113
RCV000148535
RCV000586962
RCV000618893
RCV001162548
RCV001778698
RCV001841708
RCV002228167
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg451Trp
CA006525
NM_172057.3:c.1351C>T