ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658662264
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451774
ClinVar RCV Id:
RCV000520302
RCV001805138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Arg1379Cys
CA6534529
NM_001844.5:c.4135C>T