ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658662725
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449808
ClinVar RCV Id:
RCV000523171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Leu1718Met
CA363615494
NM_080680.3:c.5152C>A