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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016874859.1:p.[Glu214_Ile224delinsLysSerThrValAlaSerMetLysIleThrPhe;Gln226_Val230delinsSerTrpLysThrPheLeu;Gln232_Leu240delinsSerCysArgPheLeuLeuCysTyrGlu]
CA2695217160
XM_017019370.2:c.636del