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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000337.1:p.[Thr240His;Lys242_Val245del;Pro247_Lys253delinsAsn;Glu255_Gly256del;Pro258_Glu261delinsAlaAla;Gly263_Arg264del;Pro266_Asp269delinsGly] |
CA986080599
NM_000346.4:c.717dup
|