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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.[Pro314_Glu319delinsLeuMetAsnThrLeu;Leu321_Trp326delinsSerSerProGln;Val329_Gly332delinsGlyLeu;Cys334_Gln336delinsTrpSerLeu;Asp338_Ile340delinsSerAlaAsn;Ala342_Tyr343delinsGluThrPro]
CA229866
NM_000277.3:c.941del