ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305481
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67443
ClinVar RCV Id:
RCV000058170
RCV000182047
RCV000578446
RCV000794762
RCV001358716
RCV001841727
RCV004019010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg948His
CA007504
NM_000238.4:c.2843G>A