Canonical Allele Identifier: PA229625
Gene: PAH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000268.1:p.Trp187Ter
NM_000277.3:c.[558del;560G>T;562G>A]

NM_000277.3:c.[558_559del;561G>T;563G>A]

NM_000277.3:c.560G>A

NM_000277.3:c.561G>A