Canonical Allele Identifier: PA2825138089
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro279Thr
CA386294537
NM_000277.3:c.835C>A