Allele Registry

Canonical Allele Identifier: PA916037422

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000370322

RCV001290651

RCV002272209

RCV002520783

ClinVar Variation:

306914

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.His100Arg	CA6748985 NM_001354304.2:c.299A>G