Allele Registry

Canonical Allele Identifier: PA916037441

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088907

RCV000811501

ClinVar Variation:

102660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp129Tyr	CA286503 NM_001354304.2:c.385G>T