Allele Registry

Canonical Allele Identifier: PA3057571499

Gene: PAH HGNC NCBI

ClinVar Allele:

3410247

ClinVar RCV:

RCV004587854

ClinVar Variation:

3251448

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala322Ser	CA386291542 NM_001354304.2:c.964G>T