Canonical Allele Identifier: PA2830151930
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476496
ClinVar RCV Id: RCV000535368
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly292Arg
CA410525191
NM_058174.3:c.874G>C