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Canonical Allele Identifier: Get Identifier
Gene: KCNH2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000328531.4:p.[Ala575Gln;Pro577_Arg580delinsArgValAlaGlyAla;Pro583del;Pro586_Trp587delinsArgGly;Glu589_Gly594delinsArgAlaArgProValAla;Ser596_Glu604delinsProAlaLeuArgAlaValArgMetArg]
CA2573141853
ENST00000330883.9:c.1723del