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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001280124.1:p.[Ser459_Lys463delinsPheHisArgHisGlu;Val465Gly;Arg467_Gln470delinsProCysValSer;Gln472_Met478delinsProThrAlaArgAspLeuTyr;Ser480delinsPheGln;Arg482_Gln484delinsValProGly;Ser486Leu;Pro488del] |
CA2645376499
NM_001293195.2:c.1375dup
|