ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645455072
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
288812
ClinVar RCV:
RCV000369073
RCV002523125
ClinVar Variation:
335131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Glu1079Lys
CA2189207
NM_004369.4:c.3235G>A