ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA243302
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196380
ClinVar RCV Id:
RCV000177196
RCV000329032
RCV000811298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg137Gln
CA243300
NM_004369.4:c.410G>A