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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000518.1:p.[Ser417_Tyr419del;Ser421_Val430delinsGly;Leu432_Asp433delinsSer;Glu435_Val436delinsPro;Asn439_Trp443del;Asp445_Leu446delinsProThr] |
CA10585374
NM_000527.5:c.1245_1249dup
|