ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218790
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058282
RCV000780363
RCV003343627
ClinVar Variation:
67553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asn33Thr
CA009070
NM_172056.2:c.98A>C