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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Pro309_Glu314delinsLeuMetAsnThrLeu;Leu316_Trp321delinsSerSerProGln;Val324_Gly327delinsGlyLeu;Cys329_Gln331delinsTrpSerLeu;Asp333_Ile335delinsSerAlaAsn;Ala337_Tyr338delinsGluThrPro]
CA229866
ENST00000307000.7:c.926del