Canonical Allele Identifier: PA1139727996
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932257
ClinVar RCV Id: RCV001199982

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gln375Arg
CA16020945
NM_001354304.2:c.1124A>G