Canonical Allele Identifier: PA916037678
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 558612
ClinVar RCV Id: RCV000674910
ClinVar Variation Id: 2036025
ClinVar RCV Id: RCV002894650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.His290Gln
CA16020878
NM_001354304.2:c.870T>G
CA386294406
NM_001354304.2:c.870T>A