Allele Registry

Canonical Allele Identifier: PA229267

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088697

RCV001543647

ClinVar Variation:

102466

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gln336Arg	CA229266 NM_000277.3:c.1007A>G