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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.[Ala368_Ile369del;Asn371_Val374delinsProSerLysIle;Glu376_Val394delinsLeuSerArgSerSerSerProSerIleThrTrpGlnArgValLeuMetMetProArg;Asn396_Phe397delinsLys]
CA2697551027
ENST00000307000.7:c.1100_1101dup