Canonical Allele Identifier: PA2830146362
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335132

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg858Trp
CA2189222
NM_057165.5:c.2572C>T