Allele Registry

Canonical Allele Identifier: PA916037785

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000628

RCV000088752

ClinVar Variation:

597

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu365del	CA229337 NM_001354304.2:c.1092_1094del