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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000414946.2:p.[Glu493_Gly510delinsAlaArgGluGluGlnHisValHisSerProAsnHisSerTyrArgGlnTrpPhe;Pro512_Gly518delinsSerCysTyrTrpAsnArgAsp;Leu520_Ile523delinsSerAlaAsp] |
CA2732919469
ENST00000422392.6:c.1478_1479del
|