ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826274750
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_001191727.1:p.Arg57Cys
CA16612122
NM_001204798.2:c.169C>T