Canonical Allele Identifier: PA916037752
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 208179
ClinVar RCV Id: RCV000190375

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala342Glu
CA275935
NM_001354304.2:c.1025C>A