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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000437639.1:p.[Val486_Asp489delinsLeuArgThr;Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro;Ala504_Leu507delinsValPro;Gly509Ala;Asp511Gln;Asn513_Ala516delinsProMetSerThrCysTrpLeu] |
CA2697556251
ENST00000545707.5:c.1456_1459del
|