Canonical Allele Identifier: PA2830152395
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2126510
ClinVar RCV Id: RCV003047327

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser686Arg
CA410541353
NM_058174.3:c.2056A>C
CA410541365
NM_058174.3:c.2058C>A
CA410541367
NM_058174.3:c.2058C>G