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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000498543.1:p.Cys1250Ser |
CA337853439
ENST00000652369.1:c.3748T>A
CA337853446
ENST00000652369.1:c.3749G>C
|