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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]
CA229368
NM_000277.3:c.1166del