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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000508686.1:p.[Thr228_Thr235delinsAsnArgLeuValThrAlaGluAsn;Val237_Pro238delinsArg;Gln240_Glu242delinsSerThrLys;Pro245_Val246delinsGlyThr;Gly248_Asn253delinsIleTrpAspProGlyGlu;Ile255_Pro257delinsGlnAsn] |
CA2577511331
ENST00000693312.1:c.682dup
|