Canonical Allele Identifier: PA916037413
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 583
ClinVar RCV Id: RCV000000613 RCV000088884 RCV000763293 RCV002512609 RCV003934787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser87Arg
CA114359
NM_001354304.2:c.261C>A
CA16020758
NM_001354304.2:c.259A>C
CA386304103
NM_001354304.2:c.261C>G