Canonical Allele Identifier: PA1139742119
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932252
ClinVar RCV Id: RCV001199976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg252Pro
CA16020854
NM_001354304.2:c.755G>C