ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275380
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200417
ClinVar RCV Id:
RCV000181841
RCV002516847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.His391Pro
CA006334
NM_001204798.2:c.1172A>C