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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001182727.1:p.[Pro683_Asn688delinsLeuProArgArgSerThr;His690_Ser691delinsThrArg;Lys693_Cys696delinsSerLeuPro;Cys698del;Asp700_Leu704delinsAlaArgThr;Arg706_Leu712delinsCysCysTrpProGlyThr] |
CA2830763875
NM_001195798.2:c.2048del
|