Canonical Allele Identifier: PA913195051
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gln232Glu
CA16020842
NM_000277.3:c.694C>G