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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000344521.3:p.Lys1044del |
CA346131468
ENST00000339598.8:c.3130A>T
CA346131476
ENST00000339598.8:c.3127A>T
CA531761650
ENST00000339598.8:c.3130_3132del
|