ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830150413
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476556
ClinVar RCV Id:
RCV000536751
RCV004024370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val2262Ile
CA2187808
NM_057167.4:c.6784G>A