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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001308940.1:p.[Met539_Arg540insThrHis;Arg540_His541insGlnProGlyCys;Ile542_Asn544delinsPheSerGlu;Gly546Thr;Ile548_Gln550delinsValThrValTrp;Asn551_Ter552insAsnTrpPheTyrArgArgPheLeuCysPheGlu] |
CA2580615839
NM_001322011.2:c.1619_1620del
|