ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830148140
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196982
ClinVar RCV Id:
RCV000177882
RCV000690650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Thr1874Ala
CA244844
NM_057166.5:c.5620A>G