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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000376827.2:p.Cys492Trp |
CA251777
ENST00000393119.7:c.1476T>G
CA2580573370
ENST00000393119.7:c.[1476T>G;1115_1117del]
|