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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.[Ile374_Gln383delinsTyrProLysLeuHisCysHisGlyVal;Leu385_Val388del;Glu390_Lys396delinsProLeuLeuArgGlyArg;Lys398_Asn401del;Ala404del]
CA16020944
NM_001354304.2:c.1119_1120insT