ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305474
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67385
ClinVar RCV Id:
RCV000058106
RCV000182045
RCV000208316
RCV003531958
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp774Tyr
CA006441
NM_172056.2:c.2320G>T