ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329318
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742053.1:p.Gly800Cys
NM_172056.2:c.2398G>T