Allele Registry

Canonical Allele Identifier: PA916037399

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088875

RCV000411181

ClinVar Variation:

102632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser70del	CA229490 NM_001354304.2:c.208_210del