ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA349835
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219562
ClinVar RCV Id:
RCV000205717
RCV000599424
RCV002453735
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Lys116del
CA349833
NM_172056.2:c.348_350del