Canonical Allele Identifier: PA2499295566
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062316
ClinVar RCV Id: RCV001372016

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ala613Thr
CA10072306
NM_058175.3:c.1837G>A