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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.[Lys110_Phe116delinsThrGlnCysProGlySerGlnGlu;Arg118_Glu122delinsPheLysSerTrpThrAsp;Asp124delinsProIle;Ala127_Glu136delinsSerAlaMetGluArgAsnTrpMet;Asp138_Asp140delinsThr]
CA229518
ENST00000307000.7:c.329_332del