ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573071347
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327567
ClinVar RCV Id:
RCV001789829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala309Thr
CA16021003
NM_001354304.2:c.925G>A