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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.[Glu275_Val286delinsAsnLeuThrSerAlaMetSerCysTrpAspMetCys;Leu288Cys;Ser290_Phe294delinsGlnIleAla;Gln296_Phe297delinsLeuPro;Gln299_Gly302delinsPheProArgLys;Ala304_Ser305insLeu]
CA267677
ENST00000307000.7:c.822del