Canonical Allele Identifier: PA645455377
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335121

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1727Trp
CA2188724
NM_004369.4:c.5179C>T