ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275130
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67289
ClinVar RCV Id:
RCV000058005
RCV001211004
RCV002408564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Asp269Gly
CA005614
NM_001204798.2:c.806A>G