ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830147807
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289755
ClinVar RCV Id:
RCV000356761
RCV000546975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Gly1467Ser
CA10606535
NM_057166.5:c.4399G>A