Allele Registry

Canonical Allele Identifier: PA916037829

Gene: PAH HGNC NCBI

ClinVar Allele:

15674

ClinVar RCV:

RCV000000667

RCV000088804

ClinVar Variation:

635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro407Leu	CA229402 NM_001354304.2:c.1220C>T