Allele Registry

Canonical Allele Identifier: PA916037516

Gene: PAH HGNC NCBI

ClinVar Allele:

108476

ClinVar RCV:

RCV000088989

RCV000632878

ClinVar Variation:

102740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val190Ala	CA229631 NM_001354304.2:c.569T>C