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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000516702.1:p.[Val445_Phe468delinsGluAlaValThrGlnArgArgProGluProArgGlyGlnProGlnGlnGlyAlaGlnGluLeuGluLeuArg;Asp470_Arg475delinsProGlnProGlyThr]
CA10583878
ENST00000706989.1:c.1334_1335del