Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA220579

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000078515

RCV000721179

ClinVar Variation:

92737

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Glu57Lys	CA220578 NM_000277.3:c.169G>A