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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447620.1:p.[Lys113Arg;Lys115_Asp116del;Val118_Phe121delinsGlnCys;Arg123_Ile125delinsGlySer;Leu128_Gln134delinsProPheLysSerTrpThrAspLeuPro;Leu136delinsArgPhe]
CA16020767
ENST00000551337.5:c.338_341del