Allele Registry

Canonical Allele Identifier: PA229701

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089042

RCV002259589

ClinVar Variation:

102791

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gln235Pro	CA229700 NM_000277.3:c.704A>C