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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.[Asp116_Thr117delinsHisSerAlaLeu;Trp120_Pro122delinsLysAsnHisSer;Thr124_Ile125delinsAlaGly;Glu127_Asn133delinsIleCysGlnSerAspSer;Ile135_Leu136delinsLeuTrp;Tyr138del;Ala140_Asp145delinsThrGlyCys]
CA915946683
NM_001354304.2:c.346_347del