Canonical Allele Identifier: PA1139741922
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 972021
ClinVar RCV Id: RCV001247948

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val45Phe
CA386302394
NM_001354304.2:c.133G>T