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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_060087.3:p.Ser2017_Val2046delinsThrArgArgArgGlnArgArgArg |
CA350398
NM_017617.5:c.6049_6050del
|