Canonical Allele Identifier: PA2830151693
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285361
ClinVar RCV Id: RCV000337273 RCV001223613
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr63Met
CA10071227
NM_058174.3:c.188C>T