Canonical Allele Identifier: PA2830146283
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291124

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala772Thr
CA2189291
NM_057165.5:c.2314G>A