Canonical Allele Identifier: PA2830150794
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1302716
ClinVar RCV Id: RCV001762783
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2753Ser
CA2187424
NM_057167.4:c.8257G>T