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Canonical Allele Identifier: Get Identifier
Gene: TBXAS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001052.3:p.[Thr327_Ile340delinsTrpMetArgLeuTrpAlaArgProSerSerSerSerSerLeu;Gly342_Ile346delinsMetLysSerSerPro;Asn348_Thr349delinsHisPhe;Ser351_Ala353delinsLeuProPro;Leu356_Leu357delinsTrp]
CA2685190568
NM_001061.7:c.979_982del