Canonical Allele Identifier: PA2499267196
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005457

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val2952Ile
CA2187430
NM_004369.4:c.8854G>A