ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829183268
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
878115
ClinVar RCV Id:
RCV001104446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376559.1:p.Arg17Lys
CA380179506
NM_001389630.1:c.50G>A