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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011536724.1:p.[Pro397_Gln410delinsHisThrProLysGlyLeuArgSerTrpThrIleProSerSer;Lys412_Cys426delinsArgPheTrpLeuIleProLeuThrValLysLeuGluSerPheAla]
CA2695217220
XM_011538422.1:c.1190del