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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000497673.2:p.Arg117His |
CA221026
ENST00000647720.2:c.350G>A
CA353800
ENST00000647720.2:c.[350G>A;1210-6del]
CA891862588
ENST00000647720.2:c.[350G>A;1210-7_1210-6del]
|