ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092173
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000229.1:p.Ala561Val
NM_000238.4:c.1682C>T