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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000430235.2:p.Gln48Leu |
CA372279439
ENST00000524013.2:c.143A>T
CA2573332251
ENST00000524013.2:c.143_144delinsTT
|