Allele Registry

Canonical Allele Identifier: PA916037818

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088782

RCV002509213

ClinVar Variation:

102548

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala395Asp	CA229374 NM_001354304.2:c.1184C>A