Allele Registry

Canonical Allele Identifier: PA1139741960

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001269068

RCV004526825

RCV004545164

ClinVar Variation:

987769

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp75His	CA386304179 NM_001354304.2:c.223G>C