Allele Registry

Canonical Allele Identifier: PA916037563

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089037

RCV000190611

ClinVar Variation:

102786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser231Pro	CA229694 NM_001354304.2:c.691T>C