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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.[Tyr377del;Val379_Pro384del;Tyr386_Glu390delinsSerArgSerSer;Phe392_Lys398delinsProSerIleThrTrpGlnArg;Arg400_Ile406delinsLeuMetMetProArgArgLys]
CA229356
ENST00000553106.6:c.1129del