Allele Registry

Canonical Allele Identifier: PA2741867131

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV003599024

ClinVar Variation:

2812926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Thr238Ile	CA386295852 NM_001354304.2:c.713C>T