Allele Registry

Canonical Allele Identifier: PA916037358

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088803

RCV000697659

ClinVar Variation:

102569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu41Phe	CA229401 NM_001354304.2:c.121C>T