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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448059.1:p.[Asp143_Phe149delinsMetLeuThrThrLeuValLeu;Asp151_His170delinsIleLeuCysThrValGlnAspGlySerSerLeuLeuThrLeuProThrThrThrAlaMet;Gln172Ser]
CA2571020594
ENST00000553106.6:c.427del