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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448059.1:p.[Lys115_Phe121delinsThrGlnCysProGlySerGlnGlu;Arg123_Glu127delinsPheLysSerTrpThrAsp;Asp129delinsProIle;Ala132_Glu141delinsSerAlaMetGluArgAsnTrpMet;Asp143_Asp145delinsThr]
CA229518
ENST00000553106.6:c.344_347del