Canonical Allele Identifier: PA916037726
Gene: PAH HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001341233.1:p.Thr323del
NM_001354304.2:c.967_969del

NM_001354304.2:c.[967_969del;972T>A]

NM_001354304.2:c.[967_969del;972T>C]