ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA106723
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088708
RCV001194126
ClinVar Variation:
102477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr343Cys
CA229282
NM_000277.3:c.1028A>G