Canonical Allele Identifier: PA229877
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000268.1:p.Thr323del
NM_000277.3:c.967_969del

NM_000277.3:c.[967_969del;972T>A]

NM_000277.3:c.[967_969del;972T>C]