ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830337762
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000258955
ClinVar Variation:
279588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Leu413Arg
CA10602712
NM_172056.2:c.1238T>G