ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098551
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17155
ClinVar RCV Id:
RCV000018695
RCV001781280
RCV003764593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly271Ser
CA257720
NM_001849.4:c.811G>A