ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830151659
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290526
ClinVar RCV Id:
RCV000306725
RCV002519342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Glu32Lys
CA10071176
NM_058174.3:c.94G>A