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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011536724.1:p.[Lys352_Ala354delinsProSerLys;Gln356_Gln364delinsThrLeuSerArgSerSerSer;Leu366_Glu378delinsSerIleThrTrpGlnArgValLeuMetMetProArgArg;Val380_Phe383del]
CA2580085701
XM_011538422.1:c.1054_1060del