ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304575
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200315
ClinVar RCV Id:
RCV000181775
RCV000470774
RCV001842823
RCV002381587
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg328His
CA009061
NM_000238.4:c.983G>A