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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448059.1:p.[Glu280_Val291delinsAsnLeuThrSerAlaMetSerCysTrpAspMetCys;Leu293Cys;Ser295_Phe299delinsGlnIleAla;Gln301_Phe302delinsLeuPro;Gln304_Gly307delinsPheProArgLys;Ala309_Ser310insLeu]
CA267677
ENST00000553106.6:c.837del