ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275326
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Leu353Pro
CA006194
NM_001204798.2:c.1058T>C