ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111766
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1790883
ClinVar RCV Id:
RCV002450330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ile804Val
CA369855379
NM_000238.4:c.2410A>G