Canonical Allele Identifier: PA098416
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17172
ClinVar RCV Id: RCV000018712 RCV002274883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly341Asp
CA257736
NM_001848.3:c.1022G>A