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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000427438.1:p.[Val537_Trp539del;Asn542_Cys543delinsLeuGly;Pro546_Tyr552delinsLeuTrpLys;Lys554Arg;Ala556_Val566delinsProArgCysLeuHisGlnSerGlyGlnLeuPhe] |
CA554050591
ENST00000512148.5:c.1609dup
|