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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.[Tyr168_His170delinsSerAlaMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg]
CA229588
NM_000277.3:c.503del