Canonical Allele Identifier: PA2830150025
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290297
ClinVar RCV Id: RCV000290851 RCV001850464
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Asp1808Tyr
CA2188495
NM_057167.4:c.5422G>T