Allele Registry

Canonical Allele Identifier: PA916037715

Gene: PAH HGNC NCBI

ClinVar Allele:

108639

ClinVar RCV:

RCV000089167

RCV001857434

RCV002251982

ClinVar Variation:

102903

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala313Val	CA229861 NM_001354304.2:c.938C>T