Canonical Allele Identifier: PA916037630
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gln267Arg
CA16020862
NM_001354304.2:c.800A>G