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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.[Thr117_Phe121delinsSerAlaLeuVal;Arg123_Asp129delinsLysAsnHisSer;Phe131del;Asn133Gly;Leu136_Glu141delinsCysGlnSerAspSerGln;Asp143_Pro147delinsTrpSerGlyThrGlyCys]
CA2580614531
ENST00000553106.6:c.350_351del