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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.[Ala373_Ile374del;Asn376_Val379delinsProSerLysIle;Glu381_Val399delinsLeuSerArgSerSerSerProSerIleThrTrpGlnArgValLeuMetMetProArg;Asn401_Phe402delinsLys]
CA2697551027
ENST00000553106.6:c.1115_1116dup