Canonical Allele Identifier: PA2499251820
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1044612
ClinVar RCV Id: RCV001348880
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu316Val
CA386291621
NM_001354304.2:c.947A>T