Allele Registry

Canonical Allele Identifier: PA916037418

Gene: PAH HGNC NCBI

ClinVar Allele:

108381

ClinVar RCV:

RCV000088890

RCV000763292

ClinVar Variation:

102645

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile95Phe	CA229507 NM_001354304.2:c.283A>T