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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.[Leu424_Gln429delinsTrpThrIleProSerSer;Lys431_Ser436delinsArgPheTrpLeu;Asn438_Ile443delinsProLeuThrValLys;Cys445Glu;Ser446_Ala447insPhe;Leu448_Ile451delinsValProSerArg]
CA16020987
NM_001354304.2:c.1269del