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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512444.1:p.[Gln232Arg;Asp234_Leu238delinsThr;Glu241_Met248delinsMetCysArgLysThrTrpSer;Asp250Ter] |
CA2586965684
ENST00000696153.1:c.675_694dup
|