Canonical Allele Identifier: PA3079811518
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Lys274Asn
CA386294551
NM_000277.3:c.822G>T
CA386294552
NM_000277.3:c.822G>C