Canonical Allele Identifier: PA2830148441
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497839
ClinVar RCV Id: RCV000594579 RCV001234226 RCV004024719
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2273Met
CA2187480
NM_057166.5:c.6818C>T