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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.[Asp17_Glu21delinsLeu;Ser23_Glu26delinsLeu;Asn28_Asn30delinsArgLys;Asn32_Gly33del;Ser36_Leu41delinsLeuLysThrThrAlaIle;Glu43_Gly46delinsMetValProTyrHis]
CA16020717
NM_000277.3:c.47_48dup