Allele Registry

Canonical Allele Identifier: PA916037813

Gene: PAH HGNC NCBI

ClinVar Allele:

125856

ClinVar RCV:

RCV000106343

ClinVar Variation:

120262

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp394Tyr	CA267632 NM_001354304.2:c.1180G>T