ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830146955
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291124
ClinVar RCV Id:
RCV000354464
RCV002518159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Ala371Thr
CA2189291
NM_057166.5:c.1111G>A