ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275275
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67348
ClinVar RCV Id:
RCV000058068
RCV000205745
RCV003162442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Gly317Ser
CA006114
NM_001204798.2:c.949G>A