Canonical Allele Identifier: PA645455481
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284791

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2611Val
CA2187688
NM_004369.4:c.7832C>T