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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000467390.1:p.Val44Leu |
CA373086148
ENST00000578845.2:c.130G>T
CA373086149
ENST00000578845.2:c.130G>C
CA645552466
ENST00000578845.2:c.130_132delinsCTC
|