Allele Registry

Canonical Allele Identifier: PA2573206210

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV002260486

ClinVar Variation:

1693227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro279Cys	CA645372267 NM_001354304.2:c.835_836delinsTG