Allele Registry

Canonical Allele Identifier: PA2580223071

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV002727585

ClinVar Variation:

2226702

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Met276Leu	CA6748838 NM_001354304.2:c.826A>T CA386294548 NM_001354304.2:c.826A>C