ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830337738
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405343
ClinVar RCV Id:
RCV000456992
RCV000619671
RCV001841347
RCV003328583
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg397Cys
CA16612122
NM_172056.2:c.1189C>T