ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573307380
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002025003
ClinVar Variation:
1481723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg692Gly
CA369852668
NM_172057.3:c.2074C>G