Canonical Allele Identifier: PA2830149692
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 259301
ClinVar RCV Id: RCV000243769 RCV000543223 RCV000727538
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala1411Thr
CA2188802
NM_057167.4:c.4231G>A