ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304789
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67274
ClinVar RCV Id:
RCV000057990
RCV000181819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro596His
CA005488
NM_172056.2:c.1787C>A