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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.[Thr373_Gln378delinsCysHisGlyValProAla;Tyr381_Ala384delinsLeuArgGlyArg;Ser386del;Asn388_Pro402del]
CA2620507197
ENST00000307000.7:c.1117_1118del