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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.[Asn376_Tyr377delinsIle;Val379_Pro384del;Tyr386_Glu390delinsSerArgSerSer;Phe392_Lys398delinsProSerIleThrTrpGlnArg;Arg400_Thr405delinsLeuMetMetProArgArgLys]
CA229355
NM_000277.3:c.1127del