ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305473
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67385
ClinVar RCV Id:
RCV000058106
RCV000182045
RCV000208316
RCV003531958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Asp434Tyr
CA006441
NM_172057.3:c.1300G>T