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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.[Asp111_Thr112delinsHisSerAlaLeu;Trp115_Pro117delinsLysAsnHisSer;Thr119_Ile120delinsAlaGly;Glu122_Asn128delinsIleCysGlnSerAspSer;Ile130_Leu131delinsLeuTrp;Tyr133del;Ala135_Asp140delinsThrGlyCys]
CA915946683
ENST00000307000.7:c.331_332del