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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000442096.3:p.Cys349Trp |
CA251777
ENST00000537529.7:c.1047T>G
CA2580573370
ENST00000537529.7:c.[1047T>G;686_688del]
|