Canonical Allele Identifier: PA354146
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gln267Leu
CA354145
NM_000277.3:c.800A>T