Canonical Allele Identifier: PA2830149479
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128819
ClinVar RCV Id: RCV000180594 RCV000304466 RCV000224823 RCV001081946 RCV001358668 RCV004549581
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Glu1180Lys
CA203744
NM_057167.4:c.3538G>A