Allele Registry

Canonical Allele Identifier: PA2499251820

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001348880

ClinVar Variation:

1044612

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu316Val	CA386291621 NM_001354304.2:c.947A>T