ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741867094
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2506173
ClinVar RCV Id:
RCV003236404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg111Gln
CA242509652
NM_001354304.2:c.332G>A