Allele Registry

Canonical Allele Identifier: PA916037669

Gene: PAH HGNC NCBI

ClinVar Allele:

108612

ClinVar RCV:

RCV000089137

RCV000169005

ClinVar Variation:

102876

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile283Phe	CA229820 NM_001354304.2:c.847A>T