Allele Registry

Canonical Allele Identifier: PA2580223161

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV002374231

RCV003094826

ClinVar Variation:

1767270

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile318Val	CA242465796 NM_001354304.2:c.952A>G