ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658663478
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446524
ClinVar RCV Id:
RCV000515792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg169Pro
CA386299458
NM_000277.3:c.506G>C