Allele Registry

Canonical Allele Identifier: PA916037366

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088838

ClinVar Variation:

102598

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala47Glu	CA229441 NM_001354304.2:c.140C>A