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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.[Phe121_Pro122insGlnGlu;Arg123_Glu127delinsPheLysSerTrpThrAsp;Asp129delinsProIle;Ala132_Glu141delinsSerAlaMetGluArgAsnTrpMet;Asp143_Phe149delinsThrThrLeuValLeu;Asp151Ile]
CA1139660759
NM_001354304.2:c.365del