Canonical Allele Identifier: PA2580223071
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2226702
ClinVar RCV Id: RCV002727585

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Met276Leu
CA6748838
NM_001354304.2:c.826A>T
CA386294548
NM_001354304.2:c.826A>C