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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001180346.1:p.[Gly517Ala;Val519Ala;Asn521_Ala525del;Ser527_Ile534delinsCysArgLysProTrpProGly;Ile536_Asp539del;Leu541_Asp542delinsIle;Leu544_Val545del] |
CA2516883493
NM_001193417.3:c.1547_1548insTGCTCGTGCA
|