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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000420412.2:p.Tyr749Ter |
CA003713
ENST00000478531.6:c.2246dup
CA3060571189
ENST00000478531.6:c.2246_2249del
|