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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000497767.1:p.[Lys230Ser;Asn232_Val234del;Ala236_Cys240delinsTrp;Lys242_Gln248del;Ala250_Val261del] |
CA2499219518
ENST00000647789.2:c.689del
|