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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000383.1:p.[Ser1153_Ser1157delinsCysHisGlnVal;Ile1159_Phe1163delinsAsnLeuLeu;Glu1165_Val1172delinsLeuGlnArgAspArg;Ala1175del;Glu1177_Phe1182delinsAlaSerTyrProCys] |
CA595452607
NM_000392.4:c.3458_3459del
|