Canonical Allele Identifier: PA106235
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102833
ClinVar Variation Id: 1066686
ClinVar RCV Id: RCV001377752

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Phe263Leu
CA229760
NM_000277.3:c.789C>G
CA386295393
NM_000277.3:c.789C>A
CA386295406
NM_000277.3:c.787T>C