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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.[Ala404_Arg408delinsProGlnTyrLeuGly;Phe410del;Val412_Tyr417delinsGlnPheAlaThrThrHis;Gln419_Leu433delinsProLysGlyLeuArgSerTrpThrIleProSerSerLeuArgPhe]
CA658821440
NM_001354304.2:c.1209del