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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000500.2:p.[Asp390_Ile413delinsGluTrpHisTyrLeuGlyHisLeuGluAsnProValValPheHisGluGluAsnHisTyrGluAspAsn;Phe415_Ile420delinsIleGlnGlnThrHisAsn] |
CA915940556
NM_000509.5:c.1170_1171del
|