Canonical Allele Identifier: PA916037441
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102660
ClinVar RCV Id: RCV000088907 RCV000811501
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp129Tyr
CA286503
NM_001354304.2:c.385G>T