Allele Registry

Canonical Allele Identifier: PA916037784

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088750

RCV000668925

RCV000669869

RCV001526923

ClinVar Variation:

102517

554266

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys363Asn	CA229334 NM_001354304.2:c.1089G>T CA386493324 NM_001354304.2:c.1089G>C