ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037810
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225136
ClinVar RCV Id:
RCV000210788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ser391Thr
CA357240
NM_001354304.2:c.1172G>C