ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916053512
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_476505.3:p.Arg901Gln
CA248099
NM_057164.5:c.2702G>A