Allele Registry

Canonical Allele Identifier: PA267633

Gene: PAH HGNC NCBI

ClinVar Allele:

125856

ClinVar RCV:

RCV000106343

ClinVar Variation:

120262

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Asp394Tyr	CA267632 NM_000277.3:c.1180G>T