ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037853
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102585
ClinVar RCV Id:
RCV000088824
RCV001789756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Leu430Pro
CA229426
NM_001354304.2:c.1289T>C