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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000303500.2:p.[His59_Arg63del;Ser65_Arg66delinsThr;Lys68_His77delinsAsn;Lys80_Ser82del;Pro84_Ala85del;Thr87_Asn88delinsVal] |
CA913184978
ENST00000307000.7:c.174_175dup
|