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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447620.1:p.[Asp116_Phe121delinsHisSerAlaLeuVal;Arg123_Leu136delinsLysAsnHisSerArgAlaGlyGlnIleCysGlnSerAspSer]
CA915946683
ENST00000551337.5:c.346_347del