Allele Registry

Canonical Allele Identifier: PA916037485

Gene: PAH HGNC NCBI

ClinVar Allele:

108451

926450

ClinVar RCV:

RCV000088963

RCV001048510

RCV001215065

ClinVar Variation:

102715

944625

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.His170Gln	CA229597 NM_001354304.2:c.510T>A CA6748900 NM_001354304.2:c.510T>G