Allele Registry

Canonical Allele Identifier: PA916037590

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089068

RCV000673258

ClinVar Variation:

102813

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala246Val	CA229727 NM_001354304.2:c.737C>T