Canonical Allele Identifier: PA2830148392
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476561
ClinVar RCV Id: RCV000541124

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg2207Trp
CA351194393
NM_057166.5:c.6619A>T