ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830340316
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642118
ClinVar RCV Id:
RCV000795514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Glu564Gly
CA369853536
NM_172057.3:c.1691A>G