Canonical Allele Identifier: PA239744
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 193988
ClinVar RCV Id: RCV000174234

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gln429Pro
CA239743
NM_000277.3:c.1286A>C