ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA229568
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088939
RCV002513933
ClinVar Variation:
102691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg157Ile
CA229567
NM_000277.3:c.470G>T