Canonical Allele Identifier: PA645455077
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335130

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1096Cys
CA2189198
NM_004369.4:c.3286C>T