ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA229474
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088861
RCV000758120
ClinVar Variation:
102619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Thr63Pro
CA229473
NM_000277.3:c.187A>C