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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000414946.2:p.[Asp508_Pro512delinsMet;Ala514_Thr519delinsLeuGln;Ile523_Thr538delinsGluGlnGlyHisPheCys] |
CA2580092018
ENST00000422392.6:c.1522_1525del
|