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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000498906.2:p.[Ser1250His;Gln1252_Thr1260del;Asn1262_Thr1263delinsVal;Thr1265_Ser1274delinsTrp;Gln1276_Gln1280delinsThr] |
CA063243
ENST00000652672.2:c.3748_3751del
|