ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830150673
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476561
ClinVar RCV Id:
RCV000541124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg2608Trp
CA351194393
NM_057167.4:c.7822A>T