Canonical Allele Identifier: PA916037764
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly346Glu
CA16020921
NM_001354304.2:c.1037G>A