Canonical Allele Identifier: PA2825138133
Gene: PAH HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Tyr317Cys
CA386291606
NM_000277.3:c.950A>G