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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001041638.1:p.[Ser486_Cys489delinsTrpAlaSerLys;Arg491_Met496delinsTrpIleIleSerPhe;Gln498_Val500del;Asp502_Ile509delinsThrSerProLeuMetHisThrAla;Asp512_His514delinsValGlnPro;Leu516_Asn517delinsAspThr;Ala519_Gln521delinsGlu] |
CA2499214753
NM_001048173.1:c.1457_1487del
|