Allele Registry

Canonical Allele Identifier: PA229293

Gene: PAH HGNC NCBI

ClinVar Allele:

108221

108222

ClinVar RCV:

RCV000088716

RCV000088717

ClinVar Variation:

102485

102486

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly346Arg	CA229292 NM_000277.3:c.1036G>A CA229294 NM_000277.3:c.1036G>C