ClinGen Allele Registry
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Canonical Allele Identifier:
PA329479
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78378
ClinVar RCV:
RCV000058211
RCV001040354
ClinVar Variation:
67482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Cys108Arg
CA008126
NM_172056.2:c.322T>C