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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.[Gly307Ala;Ala309_Ser310delinsPro;Gly312_Glu319delinsTrpValHisLeuMetAsnThrLeu;Leu321_Phe331delinsSerSerProGlnPheThrGlyLeuLeuTrpSerLeu;Leu333_Gln336delinsSerAlaAsnLys]
CA16020897
ENST00000553106.6:c.920del