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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.[Met276_Thr278delinsProCysIle;Glu280_Val291delinsProAsnLeuThrSerAlaMetSerCysTrpAspMetCys;Leu293Cys;Ser295_Gln301delinsGlnIleAlaAlaLeuProSer;Ser303_Glu305delinsProArg]
CA2620514696
ENST00000553106.6:c.824_825dup