Allele Registry

Canonical Allele Identifier: PA267629

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000106341

ClinVar Variation:

120260

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Val388Ala	CA267628 NM_000277.3:c.1163T>C