Allele Registry

Canonical Allele Identifier: PA229517

Gene: PAH HGNC NCBI

ClinVar Allele:

108387

ClinVar RCV:

RCV000088897

RCV002259587

ClinVar Variation:

102651

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ser110Leu	CA229516 NM_000277.3:c.329C>T