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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000435950.1:p.Glu248Gln |
CA379370913
ENST00000533123.5:c.742G>C
CA2695213119
ENST00000533123.5:c.741_742delinsGC
|