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)
Transcript change
ENSP00000448059.1:p.Thr323del
ENST00000553106.6:c.967_969del
ENST00000553106.6:c.[967_969del;972T>A]
ENST00000553106.6:c.[967_969del;972T>C]
