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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000454158.1:p.[Ser1165_Ser1173delinsProArgAspLysProValGlnGlnGln;Gly1175del;Gly1177del;Ser1179_Tyr1194delinsLysLysCysArg] |
CA912994806
ENST00000560509.5:c.3493_3494del
|