Allele Registry

Canonical Allele Identifier: PA916037585

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089064

RCV000632879

ClinVar Variation:

102811

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val245Glu	CA229725 NM_001354304.2:c.734T>A