Canonical Allele Identifier: PA916037484
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 125436
ClinVar RCV Id: RCV000111461

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg169Cys
CA267693
NM_001354304.2:c.505C>T