Canonical Allele Identifier: PA916037489
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102717
ClinVar RCV Id: RCV000088965 RCV003474692
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly171Ala
CA229599
NM_001354304.2:c.512G>C