ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037544
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102772
ClinVar RCV Id:
RCV000089022
RCV000758101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Cys217Tyr
CA229674
NM_001354304.2:c.650G>A