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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000498906.1:p.[Val252del;Lys254_Phe257del;Asn259Arg;Ser261_Pro264del;Leu266_His271del;Arg273_Asn282del] |
CA003954
ENST00000652672.1:c.751_754dup
|