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Canonical Allele Identifier: Get Identifier
Gene: TH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000351.2:p.[Leu239_Gly241delinsGluGlyPro;Tyr243delinsArgHis;Thr245_His246delinsArgLeuArgGly;Cys248Pro;Glu250_Glu253delinsGlyLeuCysPhe;Phe255Gly;Leu258_Glu259delinsGln;Phe261_Ser262delinsLeuPro;Tyr264del;Glu266_Asn268delinsGln]
CA891862723
NM_000360.3:c.714_715del