ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826138438
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2058684
ClinVar RCV Id:
RCV002952405
RCV002952404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Val330Ile
CA380168890
NM_001178083.2:c.988G>A