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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.[Ser105_Lys109delinsTyrGluIleArgArg;Asp111del;Val113_Phe116delinsGlnCys;Arg118_Ile120delinsGlySer;Leu123_Gln129delinsProPheLysSerTrpThrAspLeuPro;Leu131delinsArgPhe;Tyr133_Gly134delinsAlaMetGlu]
CA16041561
ENST00000307000.7:c.314del