ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305214
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000181932
RCV000631676
RCV002408789
ClinVar Variation:
200559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro63His
CA005881
NM_000238.4:c.188C>A