Canonical Allele Identifier: PA916037758
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102480
ClinVar RCV Id: RCV000088711 RCV001543645
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly344Arg
CA229287
NM_001354304.2:c.1030G>C