Canonical Allele Identifier: PA2573071347
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala309Thr
CA16021003
NM_001354304.2:c.925G>A