Allele Registry

Canonical Allele Identifier: PA916037828

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088802

RCV000672236

ClinVar Variation:

102568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro407Ser	CA229400 NM_001354304.2:c.1219C>T