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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514757.1:p.[Lys239Arg;Glu241_Lys245delinsLeuProGlnThrGlu;Asn247_Leu250delinsAspAla;Asp253_Glu270delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGly] |
CA000566
ENST00000700021.1:c.716_720del
|