ClinGen Allele Registry
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Canonical Allele Identifier:
PA329398
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058162
RCV000471859
RCV001841723
RCV002433556
RCV002483096
ClinVar Variation:
67436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg582Gln
CA007347
NM_172057.3:c.1745G>A