ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275374
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527007
ClinVar RCV Id:
RCV000631702
RCV001756044
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Leu384Pro
CA369856677
NM_001204798.2:c.1151T>C