Allele Registry

Canonical Allele Identifier: PA267694

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000111461

ClinVar Variation:

125436

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg169Cys	CA267693 NM_000277.3:c.505C>T