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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Val5_Leu11delinsSerTrpLysThrGlnAlaTrpAla;Arg13_Lys14delinsAsnSer;Ser16delinsThrLeu;Phe18_Gly19delinsArgLys;Glu21_Ala34delinsAlaIleLeuLysThrThrAlaIleLysMetValPro]
CA16020714
NM_000277.3:c.13del