ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829328743
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1932834
ClinVar RCV Id:
RCV002635563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Asp651Tyr
CA410539117
NM_001849.4:c.1951G>T