Allele Registry

Canonical Allele Identifier: PA916037647

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089114

RCV000672603

ClinVar Variation:

102853

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro275Ser	CA229789 NM_001354304.2:c.823C>T