Canonical Allele Identifier: PA2830151876
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197202
ClinVar RCV Id: RCV000178169 RCV000805017
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly244Arg
CA245199
NM_058174.3:c.730G>A
CA410523293
NM_058174.3:c.730G>C