ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105696
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102828
ClinVar RCV Id:
RCV000089085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gly257Cys
CA229750
NM_000277.3:c.769G>T