Allele Registry

Canonical Allele Identifier: PA916037470

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088945

RCV000674841

ClinVar Variation:

102697

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe161Ser	CA229575 NM_001354304.2:c.482T>C