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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.[Tyr386_Ser391del;Asn393_Lys398delinsThrTrpGlnArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Asp415delinsLys]
CA2695217224
NM_001354304.2:c.1157del