Canonical Allele Identifier: PA916037707
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser310Tyr
CA229854
NM_001354304.2:c.929C>A