ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305376
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67226
ClinVar RCV Id:
RCV000057936
RCV001703966
RCV001854196
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala558Glu
CA004976
NM_172056.2:c.1673C>A