Allele Registry

Canonical Allele Identifier: PA916037622

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089095

RCV000810805

ClinVar Variation:

102836

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Cys265Tyr	CA229763 NM_001354304.2:c.794G>A