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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Gln383His;Leu385_Glu390del;Phe392_Lys398delinsIleThrTrpGlnArg;Arg400_Ile406delinsLeuMetMet;Pro409_Arg413delinsArgLys]
CA1139662837
NM_000277.3:c.1149del