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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.[Ser226_Gly234delinsValSerValProAlaAspLeuHisTrp;Arg236_Arg238delinsProPro;Val240_Ala241delinsThrCys;Leu243_Asp248delinsTrpProAlaPheLeuSerGly;Gly252_Phe255delinsTrpProGlyLeu]
CA16020841
ENST00000307000.7:c.675_676insG