ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057712998
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ile782Phe
CA369856075
NM_000238.4:c.2344A>T