Allele Registry

Canonical Allele Identifier: PA2573206306

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV002260487

ClinVar Variation:

1693228

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys398Asn	CA16020959 NM_001354304.2:c.1194A>C CA386493132 NM_001354304.2:c.1194A>T