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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.[Val240dup;Gly242_Leu243delinsCysPhePro;Ser245_Phe258delinsGlyIleSerTrpValAlaTrpProSerGluSerSerThrAla;Cys260Ser;Gln262_Gly267delinsSerAspMetAspPro;Lys269del]
CA229729
ENST00000307000.7:c.722del