ClinGen Allele Registry
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Canonical Allele Identifier:
PA093081
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78198
ClinVar RCV:
RCV000058020
RCV003531956
ClinVar Variation:
67302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Thr623Ile
CA005728
NM_000238.4:c.1868C>T