ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275167
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67302
ClinVar RCV Id:
RCV000058020
RCV003531956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Thr283Ile
CA005728
NM_001204798.2:c.848C>T