Allele Registry

Canonical Allele Identifier: PA105743

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000661

RCV000088836

RCV002512613

ClinVar Variation:

629

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly46Ser	CA229439 NM_000277.3:c.136G>A