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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000438689.2:p.[Thr217Ser;Gln220_Leu225delinsSerCysSerLeuAlaGlnArg;Pro226_Lys227insArg;Leu228_Cys238delinsLysAsnThrSerProSerTrpHisLeuGlyArg;Thr240_Glu241delinsTrp;Ser243Leu;Gly245_Ser246delinsVal] |
CA2635781252
ENST00000543245.6:c.626_648dup
|