ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275061
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Arg242Cys
CA005345
NM_001204798.2:c.724C>T