Canonical Allele Identifier: PA2580231072
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2173312
ClinVar RCV Id: RCV002574572

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala140Val
CA6748960
NM_001354304.2:c.419C>T