ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092242
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg176Trp
CA008553
NM_000238.4:c.526C>T