Canonical Allele Identifier: PA645455489
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335103
ClinVar RCV Id: RCV000388647 RCV001314534
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Lys2684Gln
CA10612833
NM_004369.4:c.8050A>C