ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA251243
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197564
ClinVar RCV Id:
RCV000178624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly1092Asp
CA251242
NM_001844.5:c.3275G>A