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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000315609.4:p.[Thr2271_Thr2279delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2281_Thr2286delinsAlaCysAsnHisHisAsn;Pro2288_Ala2300delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer] |
CA2187482
ENST00000347401.7:c.6811dup
|