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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000377309.2:p.Arg532Cys |
CA5252534
ENST00000393706.6:c.1594C>T
CA645553522
ENST00000393706.6:c.1593_1594delinsTT
|