ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580231005
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137414
ClinVar RCV Id:
RCV003058394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg71Cys
CA16020748
NM_001354304.2:c.211C>T