Canonical Allele Identifier: PA2580223244
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro362Ser
CA6748745
NM_001354304.2:c.1084C>T