Allele Registry

Canonical Allele Identifier: PA2825138129

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001348880

ClinVar Variation:

1044612

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Glu316Val	CA386291621 NM_000277.3:c.947A>T