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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000009.1:p.[Thr230_Ser235delinsAsnLeuCysCysAlaGln;Cys237_Gly238delinsLeuTrp;Tyr240_Thr242delinsIle;Asn244_Leu248delinsTyrProGln;Ile250_Gly254delinsLysGlnAla;Ala256del;Ile258_Phe259delinsGln] |
CA916083527
NM_000018.4:c.688dup
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