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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000439.1:p.Phe1043_Ter1044insGluValGlyGlnProLeuMetSerTrpPheLeuGlnLeuSerPheProLeuGlyCysIleGluGlyPheSer |
CA380137197
NM_000448.2:c.3130T>G
|