ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037570
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000758131
ClinVar Variation:
619166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Thr238Ala
CA16020847
NM_001354304.2:c.712A>G