Canonical Allele Identifier: PA916053836
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284774

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg943Trp
CA2189167
NM_057167.4:c.2827C>T