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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000501589.1:p.Cys1716Ser |
CA349068928
ENST00000674923.1:c.5147G>C
CA349068936
ENST00000674923.1:c.5146T>A
|