Canonical Allele Identifier: PA2830151915
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289114

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly283Glu
CA10606332
NM_058174.3:c.848G>A