Allele Registry

Canonical Allele Identifier: PA229310

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088728

RCV002514541

ClinVar Variation:

102497

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly352Cys	CA229309 NM_000277.3:c.1054G>T