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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.[Val463_Phe486delinsGluAlaValThrGlnArgArgProGluProArgGlyGlnProGlnGlnGlyAlaGlnGluLeuGluLeuArg;Asp488_Arg493delinsProGlnProGlyThr]
CA10583878
NM_172107.3:c.1388_1389del