Canonical Allele Identifier: PA645455059
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291124
ClinVar RCV Id: RCV000354464 RCV002518159
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala978Thr
CA2189291
NM_004369.4:c.2932G>A