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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000432174.2:p.[Val238_Asp239del;Pro241_Ser244delinsIlePhe;Ala246Trp;Asn248_Ser260del;Ile262Gln;Thr264_Asn267del] |
CA1139771335
ENST00000532616.2:c.712del
|