ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916053516
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Val905Met
CA2189037
NM_057164.5:c.2713G>A