ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305382
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182026
RCV000531749
RCV002408791
ClinVar Variation:
200733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.His562Tyr
CA005051
NM_172056.2:c.1684C>T