Allele Registry

Canonical Allele Identifier: PA229442

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088838

ClinVar Variation:

102598

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala47Glu	CA229441 NM_000277.3:c.140C>A