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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Tyr372del;Val374_Pro379del;Tyr381_Glu385delinsSerArgSerSer;Phe387_Lys393delinsProSerIleThrTrpGlnArg;Arg395_Ile401delinsLeuMetMetProArgArgLys]
CA229356
ENST00000307000.7:c.1114del