Canonical Allele Identifier: PA916037768
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 615
ClinVar RCV Id: RCV000000646 RCV000078499
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser349Pro
CA251542
NM_001354304.2:c.1045T>C