Canonical Allele Identifier: PA329193
Gene: KCNH2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_742054.1:p.Gly317Cys
NM_172057.3:c.948_949delinsTT

NM_172057.3:c.949G>T