ClinGen Allele Registry
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Canonical Allele Identifier:
PA305140
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000694140
RCV001159566
RCV001842836
RCV002321714
RCV002500536
RCV003155109
ClinVar Variation:
200522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg692Trp
CA007892
NM_172057.3:c.2074C>T