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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000470.3:p.[Gln514_Arg516delinsHisGlyProTrp;Ala518_Leu520delinsArgProGly;Arg522del;Pro524_Ala532delinsThrLeuLeuArgAlaHisArgLeuArg;Lys534_Arg543delinsGlnAlaAlaHisGlnProValGlyGlyAlaHis] |
CA992599257
NM_000479.5:c.1541_1542insC
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