Canonical Allele Identifier: PA106518
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser310Tyr
CA229854
NM_000277.3:c.929C>A