Allele Registry

Canonical Allele Identifier: PA916037743

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088697

RCV001543647

ClinVar Variation:

102466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gln336Arg	CA229266 NM_001354304.2:c.1007A>G