ClinGen Allele Registry
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Canonical Allele Identifier:
PA328867
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742054.1:p.Ser259Arg
NM_172057.3:c.775A>C
NM_172057.3:c.777C>A
NM_172057.3:c.777C>G