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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512431.1:p.Ser2250Arg |
CA399014112
ENST00000696138.1:c.6748A>C
CA399014117
ENST00000696138.1:c.6750C>A
CA399014118
ENST00000696138.1:c.6750C>G
|