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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.[Val245dup;Gly247_Leu248delinsCysPhePro;Ser250_Phe263delinsGlyIleSerTrpValAlaTrpProSerGluSerSerThrAla;Cys265Ser;Gln267_Gly272delinsSerAspMetAspPro;Lys274del]
CA229729
XM_011538422.1:c.737del