Canonical Allele Identifier: PA2580501365
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1901919
ClinVar RCV Id: RCV002579896

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu275Lys
CA410524732
NM_058175.3:c.823G>A