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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016874859.1:p.[Asp229_Val230delinsThrPheLeu;Gln232delinsSerCysArg;Gln235_Ala238delinsLeuCysTyrGluLeuGly;Val239_Leu240insCysValCysValArgAsnVal;Leu240_Ter241insPheSerGlyMetVal]
CA2575266911
XM_017019370.2:c.684del