Canonical Allele Identifier: PA916053856
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198791
ClinVar RCV Id: RCV000180242 RCV001852242 RCV003398904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val991Ile
CA247620
NM_057167.4:c.2971G>A