Allele Registry

Canonical Allele Identifier: PA916037568

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089042

RCV002259589

ClinVar Variation:

102791

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gln235Pro	CA229700 NM_001354304.2:c.704A>C