Allele Registry

Canonical Allele Identifier: PA916037660

Gene: PAH HGNC NCBI

ClinVar Allele:

462155

ClinVar RCV:

RCV000551613

ClinVar Variation:

458081

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro279Ala	CA386294536 NM_001354304.2:c.835C>G