Canonical Allele Identifier: PA916037362
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 552279
ClinVar RCV Id: RCV000667507

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Lys42del
CA658821284
NM_001354304.2:c.124_126del