ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037429
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225134
ClinVar RCV Id:
RCV000210807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.His107Arg
CA354151
NM_001354304.2:c.320A>G