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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.[Gly218_Ile224delinsAlaSerMetLysIleThrPhe;Gln226_Val230delinsSerTrpLysThrPheLeuAsn;Gln232_Phe233delinsCysArg;Gln235_Arg241delinsAlaLeuValSerAlaSerAsp;Arg243_Val245delinsTrpLeu;Gly247del]