Canonical Allele Identifier: PA1139742158
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932254
ClinVar RCV Id: RCV001199979

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr278Ser
CA16020867
NM_001354304.2:c.833C>G
CA386294538
NM_001354304.2:c.832A>T