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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Gly312_Glu319delinsValHisLeuMetAsnThrLeu;Leu321_Trp326delinsSerSerProGln;Val329_Gly332delinsGlyLeuLeuTrpSer;Cys334_Lys341delinsGlySerAlaAsnLysGluThrPro]
CA16020900
NM_000277.3:c.935del