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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000500964.2:p.Ser430Arg |
CA388036179
ENST00000674147.2:c.1290C>G
CA388036181
ENST00000674147.2:c.1290C>A
CA388036190
ENST00000674147.2:c.1288A>C
|