ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830149400
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199093
ClinVar RCV Id:
RCV000180600
RCV000803816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg1102Gln
CA248099
NM_057167.4:c.3305G>A