Allele Registry

Canonical Allele Identifier: PA916037523

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089001

RCV000509208

RCV000588479

ClinVar Variation:

102752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.His201Tyr	CA229643 NM_001354304.2:c.601C>T