ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645455512
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285998
ClinVar RCV Id:
RCV000289268
RCV000350575
RCV000687574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Thr2878Ala
CA2187486
NM_004369.4:c.8632A>G