This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.[Asp229_Gln232delinsThr;Gln235_Thr236delinsSerSer;Thr238_Phe240del;Arg243_Pro244delinsAlaLeu;Val245_Ala246insSer;Gly247_Leu248delinsSerAsp;Ser250_Asp253delinsTrpLeuAlaCys;Phe254_Leu255insPro;Gly257_Leu258delinsIleSerTrpValAla]
CA2575266911
NM_001354304.2:c.684del