Canonical Allele Identifier: PA2825138041
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1065380
ClinVar RCV Id: RCV001375898

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Glu228Asp
CA386296574
NM_000277.3:c.684A>T
CA386296575
NM_000277.3:c.684A>C