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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Ala160_His165delinsThrThrThrAlaMet;Gln167Ser;Ile169_Val172delinsSerLeu;Tyr174_Glu178delinsTrpAsnThrTrpArg;Thr181_Trp182delinsArgLysHis;Thr184_Thr188delinsAlaGlnCysSerArg;Lys190del]
CA2580085681
ENST00000307000.7:c.478_481del