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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000418986.1:p.[Phe165_Leu175delinsIleTrpGluAsnLeuSerGluGluGlyLysPro;Asn177Gln] |
CA000916
ENST00000497488.1:c.492dup
|