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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.[Trp326_Phe331del;Cys334_Asp338delinsLeuTrp;Ile340_Tyr343delinsLeu;Ala345_Leu348del;Ser350_Gly352delinsAlaAsnLys;Leu354_Gln355delinsThrPro]
CA16020912
NM_001354304.2:c.976del