Canonical Allele Identifier: PA916037814
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102545
ClinVar RCV Id: RCV000088779 RCV000714571
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp394His
CA229371
NM_001354304.2:c.1180G>C