Allele Registry

Canonical Allele Identifier: PA229790

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089114

RCV000672603

ClinVar Variation:

102853

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Pro275Ser	CA229789 NM_000277.3:c.823C>T