Allele Registry

Canonical Allele Identifier: PA1139741915

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000169302

RCV000186077

ClinVar Variation:

188933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe39del	CA229364 NM_001354304.2:c.116_118del