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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.[Thr378_Gln383delinsCysHisGlyValProAla;Tyr386_Ala389delinsLeuArgGlyArg;Ser391del;Asn393_Pro407del]
CA2620507197
NM_000277.3:c.1132_1133del