Canonical Allele Identifier: PA2830150802
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500213

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2769Val
CA2187412
NM_057167.4:c.8306C>T