ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830097558
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290774
ClinVar RCV Id:
RCV000489443
RCV000622408
RCV003987496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly477Ser
CA10606903
NM_033150.3:c.1429G>A