ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA229587
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000088952
ClinVar Variation:
102704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr168His
CA229586
NM_000277.3:c.502T>C