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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000483066.2:p.Arg173His |
CA060209
ENST00000472832.3:c.518G>A
CA891838743
ENST00000472832.3:c.518_519delinsAT
|