ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829183014
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1990493
ClinVar RCV Id:
RCV002771364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376557.1:p.Arg322Cys
CA5955062
NM_001389628.1:c.964C>T