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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.[Thr112_Phe116delinsSerAlaLeuVal;Arg118_Asp124delinsLysAsnHisSer;Phe126del;Asn128Gly;Leu131_Glu136delinsCysGlnSerAspSerGln;Asp138_Pro142delinsTrpSerGlyThrGlyCys]
CA2580614531
ENST00000307000.7:c.335_336del