Allele Registry

Canonical Allele Identifier: PA916037493

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088969

RCV000993616

ClinVar Variation:

102721

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile174Thr	CA229604 NM_001354304.2:c.521T>C