ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275377
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67373
ClinVar RCV Id:
RCV000058093
RCV003647742
RCV004017369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ile388Phe
CA006329
NM_001204798.2:c.1162A>T