Canonical Allele Identifier: PA916037842
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102579
ClinVar RCV Id: RCV000088817

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Tyr417His
CA229417
NM_001354304.2:c.1249T>C