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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448059.1:p.[Thr380_Gln383delinsArgSerSerSer;Leu385_Glu390del;Phe392_Lys398delinsIleThrTrpGlnArg;Arg400_Pro407delinsLeuMetMetProArg;Pro409Lys]
CA2695217225
ENST00000553106.6:c.1138del