Canonical Allele Identifier: PA2830150590
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288660

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2508Ser
CA2187623
NM_057167.4:c.7522G>T