ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257217
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742054.1:p.Ala221Val
NM_172057.3:c.662C>T