ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144993
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67493
ClinVar RCV Id:
RCV000058222
RCV002223783
RCV002514289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg1135His
CA008277
NM_000238.4:c.3404G>A