Canonical Allele Identifier: PA2830146438
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284774

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg943Trp
CA2189167
NM_057165.5:c.2827C>T