ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305088
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67437
ClinVar RCV Id:
RCV000058163
RCV000181891
RCV000251484
RCV000817376
RCV000987999
RCV001841724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Gly584Glu
CA007369
NM_172057.3:c.1751G>A