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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000338009.4:p.[Lys30Pro;Ile32_Ser44delinsAlaAspLeuGlnHisProGluHisAlaGlyAlaAla;Thr46Leu;Cys48_Arg52delinsHisArgLeuArgHis;Cys55delinsProArgLeuArg;Ser57Arg] |
CA915944916
ENST00000336642.8:c.83_86dup
|