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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512431.1:p.Cys2248Ser |
CA399014097
ENST00000696138.1:c.6742T>A
CA399014101
ENST00000696138.1:c.6743G>C
|