Allele Registry

Canonical Allele Identifier: PA3057547604

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000651

RCV000088753

ClinVar Variation:

620

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu365_Leu369del	CA229339 NM_001354304.2:c.1092_1106del