ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830151887
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284768
ClinVar RCV Id:
RCV000384759
RCV001216066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Gly262Asp
CA10604901
NM_058174.3:c.785G>A