ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: PAH
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.[Leu367_Leu369delinsProGlyAlaGly;Lys371_Gln383delinsAspSerHisProLysLeuHisCysHisGlyValProAla;Leu385_Ala389delinsValLeuArgGlyArg;Ser391del;Asn393_Lys396del]