Canonical Allele Identifier: PA2830152311
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127991
ClinVar RCV Id: RCV003055770

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser625Arg
CA410538576
NM_058174.3:c.1873A>C
CA410538593
NM_058174.3:c.1875C>A
CA410538596
NM_058174.3:c.1875C>G