Canonical Allele Identifier: PA221836
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93946
ClinVar RCV Id: RCV000079885 RCV000796644 RCV002514404
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val921Met
CA221834
NM_001849.4:c.2761G>A