ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573208113
Gene: EXTL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507686
ClinVar RCV Id:
RCV002048134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001431.1:p.Thr191Ile
CA370856595
NM_001440.4:c.572C>T