Allele Registry

Canonical Allele Identifier: PA229444

Gene: PAH HGNC NCBI

ClinVar Allele:

108335

ClinVar RCV:

RCV000088840

RCV001389300

ClinVar Variation:

102599

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Leu52Ser	CA229443 NM_000277.3:c.155T>C