Canonical Allele Identifier: PA1139742059
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987763
ClinVar RCV Id: RCV001269060

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu183del
CA1139532590
NM_001354304.2:c.543_545del