Allele Registry

Canonical Allele Identifier: PA106087

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088719

RCV001543642

ClinVar Variation:

102488

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Leu347Phe	CA229296 NM_000277.3:c.1039C>T