Canonical Allele Identifier: PA916054278
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476496
ClinVar RCV Id: RCV000535368
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly292Arg
CA410525191
NM_058175.3:c.874G>C