ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA233821
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166934
ClinVar RCV Id:
RCV000153086
RCV000704454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg843Gln
CA233819
NM_001849.4:c.2528G>A