Allele Registry

Canonical Allele Identifier: PA1139728059

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001236942

ClinVar Variation:

962987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys396Arg	CA6748729 NM_001354304.2:c.1187A>G