Canonical Allele Identifier: PA2830151674
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498068
ClinVar RCV Id: RCV000593689 RCV001215044
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val47Met
CA10071219
NM_058174.3:c.139G>A