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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.[Leu385_Glu390del;Phe392_Lys398delinsIleThrTrpGlnArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414Lys]
CA891843975
NM_001354304.2:c.1153del