Allele Registry

Canonical Allele Identifier: PA3057571480

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV004823287

ClinVar Variation:

3393466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys184Asn	CA386296891 NM_001354304.2:c.552G>T CA386296893 NM_001354304.2:c.552G>C