Canonical Allele Identifier: PA2830152351
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 803642
ClinVar RCV Id: RCV000990368
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg659Pro
CA321972568
NM_058174.3:c.1976G>C