ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645454686
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335143
ClinVar RCV Id:
RCV000345761
RCV001235361
RCV003144227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala355Thr
CA2189718
NM_004369.4:c.1063G>A