ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573071361
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327554
ClinVar RCV Id:
RCV001789816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Thr372Arg
CA16020942
NM_001354304.2:c.1115C>G