Canonical Allele Identifier: PA916037733
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102924
ClinVar RCV Id: RCV000089191 RCV002513935
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu330Asp
CA229893
NM_001354304.2:c.990G>C
CA386493493
NM_001354304.2:c.990G>T