Allele Registry

Canonical Allele Identifier: PA2825138167

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV003041524

ClinVar Variation:

2103816

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ser350Cys	CA386493408 NM_000277.3:c.1049C>G