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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514791.1:p.[Ala474_Gln481delinsGlnLeuLeuMetProSerMetSer;His483_Gly493delinsAsnMetMetHisProProTrp;Leu495_Ser499delinsPheGluTrpAla;His501_Tyr502del] |
CA2643225776
ENST00000700092.1:c.1418_1419insCC
|