Allele Registry

Canonical Allele Identifier: PA916037771

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088726

RCV002498473

ClinVar Variation:

102495

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser350Tyr	CA229305 NM_001354304.2:c.1049C>A