ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305495
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Thr74Arg
CA006358
NM_000238.4:c.221C>G