Canonical Allele Identifier: PA200828
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162548
ClinVar RCV Id: RCV000174100 RCV000350868 RCV000987066 RCV001719926 RCV002295283 RCV004551301
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala1638Thr
CA200826
NM_004369.4:c.4912G>A