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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000486978.1:p.Arg172_Ter173insSerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyValGlyProProHisProProArgSerTrp |
CA2695237698
ENST00000628176.2:c.516_*26del
|