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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000505483.1:p.Gln1000His |
CA391030763
ENST00000680423.1:c.3000G>C
CA391030764
ENST00000680423.1:c.3000G>T
|