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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Ser110_Lys114delinsTyrGluIleArgArg;Asp116del;Val118_Phe121delinsGlnCys;Arg123_Ile125delinsGlySer;Leu128_Gln134delinsProPheLysSerTrpThrAspLeuPro;Leu136delinsArgPhe;Tyr138_Gly139delinsAlaMetGlu]
CA16041561
NM_000277.3:c.329del