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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000461680.1:p.[Cys232_Ala237delinsLeuTrpLeuLeuValGly;Ala240_Leu241delinsArg;Gly243_Phe244delinsSerArg;Leu246_Gly248delinsProSerGlu;Leu250_Gln251delinsProAlaProAla] |
CA775819223
ENST00000574975.5:c.692dup
|