ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499300028
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171063
ClinVar RCV Id:
RCV001842054
RCV002458502
RCV002568049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Val795Ile
CA169075715
NM_172056.2:c.2383G>A