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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000373706.4:p.[Pro690_Pro701delinsThrThrThrSerPheAlaTrpGluCysTrpAsnSer;Pro704_Pro706delinsThrSerSer;Pro708_Pro717delinsAlaTrpArgSerArgAsnAlaThrSerSerSer] |
CA2578432697
ENST00000389054.8:c.2066dup
|