Allele Registry

Canonical Allele Identifier: PA229525

Gene: PAH HGNC NCBI

ClinVar Allele:

108393

ClinVar RCV:

RCV000088904

RCV001384288

ClinVar Variation:

102657

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Pro122Gln	CA229524 NM_000277.3:c.365C>A