ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305117
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058176
RCV000756285
RCV001841730
RCV002433557
RCV002483097
RCV003531960
ClinVar Variation:
67449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro963Thr
CA007577
NM_000238.4:c.2887C>A