ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093101
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058182
RCV000148532
RCV000181901
RCV000724866
RCV001159570
RCV001841735
RCV002433559
ClinVar Variation:
67455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Thr983Ile
CA007674
NM_000238.4:c.2948C>T