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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000486.1:p.[Pro237_Pro238delinsHisLeu;Pro240_Pro241delinsHisLeu;Gln243_Ile244delinsArg;Glu246_Lys248delinsValAsn;Pro250_Gln256del;Gly258del;Gly261del;Pro263Met;Asp265_Gly267del] |
CA2580100185
NM_000495.4:c.710del
|