ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328558
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala490Pro
CA004657
NM_172056.2:c.1468G>C