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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000411218.2:p.[Leu500_Lys502delinsThrGlyGln;Leu504Pro;Thr506_Gln508delinsHisArgPro;Ala510delinsCysSer;Ser512_Gly513delinsArgThr;Arg516_Ala526delinsGluAlaSerTrpAspCysArgTrpHisSerPro;Gly528del] |
CA2695214574
ENST00000413626.2:c.1497dup
|