Allele Registry

Canonical Allele Identifier: PA2580231136

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV003041168

ClinVar Variation:

2137408

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile174Asn	CA6748896 NM_001354304.2:c.521T>A