ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275192
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058034
RCV000181823
RCV000678941
RCV000763171
RCV000781486
ClinVar Variation:
67315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Asn289Ser
CA005852
NM_001204798.2:c.866A>G