Allele Registry

Canonical Allele Identifier: PA106539

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000646

RCV000078499

ClinVar Variation:

615

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ser349Pro	CA251542 NM_000277.3:c.1045T>C