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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.[Thr375_Gln378delinsArgSerSerSer;Leu380_Glu385del;Phe387_Lys393delinsIleThrTrpGlnArg;Arg395_Pro402delinsLeuMetMetProArg;Pro404Lys]
CA2695217225
ENST00000307000.7:c.1123del