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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000119.1:p.[His431_Tyr434delinsGlnPheLeuTrp;Val436_Leu442del;Tyr445_Asp457del;Ser459_Phe461del] |
CA2672902495
NM_000128.4:c.1293_1294del
|