Allele Registry

Canonical Allele Identifier: PA104931

Gene: PAH HGNC NCBI

ClinVar Allele:

108648

ClinVar RCV:

RCV000089176

RCV000797233

RCV002515784

ClinVar Variation:

102912

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala322Thr	CA229875 NM_000277.3:c.964G>A